GET /api/v1/panels/Hereditary%20ataxia/?version=1.0
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "id": 20,
    "hash_id": "559a7d1022c1fc58ad67fc97",
    "name": "Hereditary ataxia",
    "disease_group": "Neurology and neurodevelopmental disorders",
    "disease_sub_group": "Motor Disorders of the CNS",
    "status": "public",
    "version": "1.0",
    "version_created": "2017-11-05T14:59:00.203002Z",
    "relevant_disorders": [],
    "stats": {},
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        }
    ],
    "genes": [
        {
            "gene_data": {
                "gene_symbol": "AAAS",
                "omim_gene": "605378",
                "gene_name": "achalasia, adrenocortical insufficiency, alacrimia",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000094914",
                        "CDSid": "CCDS8856",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000209873",
                        "refseq": "NM_015665",
                        "biotype": "protein_coding",
                        "transcriptLength": 1840,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000094914",
                        "CDSid": "CCDS53797",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000394384",
                        "refseq": "NM_001173466",
                        "biotype": "protein_coding",
                        "transcriptLength": 1703,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000094914",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000550286",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1652,
                        "APPRIS": "alternative2",
                        "uniprot": "F8VZ44"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000094914",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000548931",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1075,
                        "APPRIS": "alternative2",
                        "uniprot": "H3BU82"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000094914",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000547757",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 949,
                        "APPRIS": "",
                        "uniprot": "F8VUB6"
                    }
                ],
                "primary_transcript": "ENST00000209873"
            },
            "entity_type": "gene",
            "entity_name": "AAAS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ABCB7",
                "omim_gene": "300135",
                "gene_name": "ATP-binding cassette, sub-family B (MDR/TAP), member 7",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131269",
                        "CDSid": "CCDS14428",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000253577",
                        "refseq": "NM_004299",
                        "biotype": "protein_coding",
                        "transcriptLength": 2377,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131269",
                        "CDSid": "CCDS65290",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000339447",
                        "refseq": "NM_001271697",
                        "biotype": "protein_coding",
                        "transcriptLength": 2234,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131269",
                        "CDSid": "CCDS65291",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000373394",
                        "refseq": "NM_001271696",
                        "biotype": "protein_coding",
                        "transcriptLength": 2353,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131269",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000529949",
                        "refseq": "NM_001271698",
                        "biotype": "protein_coding",
                        "transcriptLength": 2116,
                        "APPRIS": "alternative2",
                        "uniprot": "B4DGL8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131269",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000534524",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 580,
                        "APPRIS": "",
                        "uniprot": "E9PJR8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131269",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000526404",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 550,
                        "APPRIS": "",
                        "uniprot": "E9PNQ5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131269",
                        "CDSid": "CCDS75994",
                        "TSL": "tsl1 (assigned to previous version 2)",
                        "name": "ENST00000620875",
                        "refseq": "NM_001271699",
                        "biotype": "protein_coding",
                        "transcriptLength": 2408,
                        "APPRIS": "",
                        "uniprot": "A0A087WW65"
                    }
                ],
                "primary_transcript": "ENST00000253577"
            },
            "entity_type": "gene",
            "entity_name": "ABCB7",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Anemia, sideroblastic, with ataxia,",
                "Sideroblastic Anemia and Ataxia"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ABHD12",
                "omim_gene": "613599",
                "gene_name": "abhydrolase domain containing 12",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100997",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000465694",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 474,
                        "APPRIS": "",
                        "uniprot": "I3L206"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000100997",
                        "CDSid": "CCDS13172",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000376542",
                        "refseq": "NM_015600",
                        "biotype": "protein_coding",
                        "transcriptLength": 1725,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000100997",
                        "CDSid": "CCDS42857",
                        "TSL": "tsl2 (assigned to previous version 7)",
                        "name": "ENST00000339157",
                        "refseq": "NM_001042472",
                        "biotype": "protein_coding",
                        "transcriptLength": 2117,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100997",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000576316",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 620,
                        "APPRIS": "",
                        "uniprot": "I3L1V0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100997",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000491682",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 814,
                        "APPRIS": "",
                        "uniprot": "I3L294"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100997",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000471287",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 805,
                        "APPRIS": "",
                        "uniprot": "I3L440"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100997",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000450393",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 615,
                        "APPRIS": "",
                        "uniprot": "Q5T712"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100997",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000461204",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 712,
                        "APPRIS": "",
                        "uniprot": "I3L380"
                    }
                ],
                "primary_transcript": "ENST00000376542"
            },
            "entity_type": "gene",
            "entity_name": "ABHD12",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract",
                "Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ADCK3",
                "omim_gene": "606980",
                "gene_name": "aarF domain containing kinase 3",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000163050",
                        "CDSid": "CCDS1557",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000366779",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5523,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R3S3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000163050",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000366778",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2743,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000163050",
                        "CDSid": "CCDS1557",
                        "TSL": "tsl1",
                        "name": "ENST00000366777",
                        "refseq": "NM_020247",
                        "biotype": "protein_coding",
                        "transcriptLength": 2872,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R3S3"
                    }
                ],
                "primary_transcript": "ENST00000366779"
            },
            "entity_type": "gene",
            "entity_name": "ADCK3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "AFG3L2",
                "omim_gene": "604581",
                "gene_name": "AFG3-like AAA ATPase 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141385",
                        "CDSid": "CCDS11859",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000269143",
                        "refseq": "NM_006796",
                        "biotype": "protein_coding",
                        "transcriptLength": 3247,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141385",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000590811",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 627,
                        "APPRIS": "",
                        "uniprot": "K7EP56"
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_666",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_666t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000269143"
            },
            "entity_type": "gene",
            "entity_name": "AFG3L2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 28",
                "Ataxia, spastic, 5, autosomal recessive",
                "Spinocerebellar Ataxia, Dominant"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "AMPD2",
                "omim_gene": "102771",
                "gene_name": "adenosine monophosphate deaminase 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000531734",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 572,
                        "APPRIS": "",
                        "uniprot": "E9PJF6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000116337",
                        "CDSid": "CCDS804",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000342115",
                        "refseq": "NM_139156",
                        "biotype": "protein_coding",
                        "transcriptLength": 3728,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000469039",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 513,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000474459",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 814,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000116337",
                        "CDSid": "CCDS805",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000528667",
                        "refseq": "NM_001257360",
                        "biotype": "protein_coding",
                        "transcriptLength": 3134,
                        "APPRIS": "principal2",
                        "uniprot": "A0A024R098"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000531203",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 575,
                        "APPRIS": "",
                        "uniprot": "E9PIJ1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000116337",
                        "CDSid": "CCDS805",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000256578",
                        "refseq": "NM_004037",
                        "biotype": "protein_coding",
                        "transcriptLength": 3899,
                        "APPRIS": "principal2",
                        "uniprot": "A0A024R098"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000358729",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2838,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000369840",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3130,
                        "APPRIS": "alternative2",
                        "uniprot": "H0Y360"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000528270",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 588,
                        "APPRIS": "",
                        "uniprot": "H0YE32"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000527846",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 585,
                        "APPRIS": "",
                        "uniprot": "H0YCL9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000116337",
                        "CDSid": "CCDS58016",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000528454",
                        "refseq": "NM_001257361",
                        "biotype": "protein_coding",
                        "transcriptLength": 2728,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000116337",
                        "CDSid": "CCDS30796",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000393688",
                        "refseq": "NM_203404",
                        "biotype": "protein_coding",
                        "transcriptLength": 3217,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000116337",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000476688",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1111,
                        "APPRIS": "",
                        "uniprot": "H0YF16"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "AMPD2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 24482476"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 9 (#615809)",
                "Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014)."
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ANO10",
                "omim_gene": "613726",
                "gene_name": "anoctamin 10",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000160746",
                        "CDSid": "CCDS2710",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000292246",
                        "refseq": "NM_018075",
                        "biotype": "protein_coding",
                        "transcriptLength": 3212,
                        "APPRIS": "principal3",
                        "uniprot": "A0A024R2S0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000160746",
                        "CDSid": "CCDS56249",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000350459",
                        "refseq": "NM_001204834",
                        "biotype": "protein_coding",
                        "transcriptLength": 2039,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000160746",
                        "CDSid": "CCDS56248",
                        "TSL": "tsl2 (assigned to previous version 5)",
                        "name": "ENST00000396091",
                        "refseq": "NM_001204832",
                        "biotype": "protein_coding",
                        "transcriptLength": 2419,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000160746",
                        "CDSid": "CCDS56250",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000414522",
                        "refseq": "NM_001204831",
                        "biotype": "protein_coding",
                        "transcriptLength": 2450,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000160746",
                        "CDSid": "CCDS56247",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000451430",
                        "refseq": "NM_001204833",
                        "biotype": "protein_coding",
                        "transcriptLength": 2019,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000448045",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 583,
                        "APPRIS": "",
                        "uniprot": "H7C3N6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000427171",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 746,
                        "APPRIS": "",
                        "uniprot": "C9J670"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000428472",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 592,
                        "APPRIS": "",
                        "uniprot": "C9JH90"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000444344",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 575,
                        "APPRIS": "",
                        "uniprot": "C9JPY2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000456438",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 545,
                        "APPRIS": "",
                        "uniprot": "C9JQC9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000413397",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 511,
                        "APPRIS": "",
                        "uniprot": "C9IYD3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000439141",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 560,
                        "APPRIS": "",
                        "uniprot": "C9JA49"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000428831",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 641,
                        "APPRIS": "",
                        "uniprot": "C9IZD0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000160746",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000436073",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 497,
                        "APPRIS": "",
                        "uniprot": "C9JJS5"
                    }
                ],
                "primary_transcript": "ENST00000292246"
            },
            "entity_type": "gene",
            "entity_name": "ANO10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia, autosomal recessive 10,"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "AP1S2",
                "omim_gene": "300629",
                "gene_name": "adaptor-related protein complex 1, sigma 2 subunit",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182287",
                        "CDSid": "CCDS14173",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000329235",
                        "refseq": "NM_003916",
                        "biotype": "protein_coding",
                        "transcriptLength": 2237,
                        "APPRIS": "principal1",
                        "uniprot": "Q549M9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182287",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000452376",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 991,
                        "APPRIS": "",
                        "uniprot": "H0Y673"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182287",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000380291",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3492,
                        "APPRIS": "",
                        "uniprot": "A6NH01"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182287",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000450644",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 530,
                        "APPRIS": "",
                        "uniprot": "H7BZG6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182287",
                        "CDSid": "CCDS75958",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000545766",
                        "refseq": "NM_001272071",
                        "biotype": "protein_coding",
                        "transcriptLength": 810,
                        "APPRIS": "",
                        "uniprot": "F6SFB5"
                    }
                ],
                "primary_transcript": "ENST00000421527"
            },
            "entity_type": "gene",
            "entity_name": "AP1S2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "APTX",
                "omim_gene": "606350",
                "gene_name": "aprataxin",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000379825",
                        "refseq": "NM_175069",
                        "biotype": "protein_coding",
                        "transcriptLength": 2023,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000379825",
                        "refseq": "NM_001195251",
                        "biotype": "protein_coding",
                        "transcriptLength": 2023,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000494649",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2099,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000397172",
                        "refseq": "NM_001195252",
                        "biotype": "protein_coding",
                        "transcriptLength": 1740,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000465003",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1991,
                        "APPRIS": "",
                        "uniprot": "Q6JV79"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000485479",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1986,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000379817",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2106,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000467331",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2101,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000472896",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1759,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000483148",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1764,
                        "APPRIS": "",
                        "uniprot": "Q6JV79"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000482687",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1879,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000460940",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1874,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000379819",
                        "refseq": "NM_001195248",
                        "biotype": "protein_coding",
                        "transcriptLength": 1820,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000479656",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1881,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000468275",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1455,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000474658",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 952,
                        "APPRIS": "",
                        "uniprot": "F8WBM3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000463596",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1345,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "CCDS56568",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000476858",
                        "refseq": "NM_001195250",
                        "biotype": "protein_coding",
                        "transcriptLength": 1068,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000495360",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1313,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 7)",
                        "name": "ENST00000379812",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 599,
                        "APPRIS": "",
                        "uniprot": "F8W6G5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000473221",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 687,
                        "APPRIS": "",
                        "uniprot": "C9JZ40"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000464632",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 679,
                        "APPRIS": "",
                        "uniprot": "E7EUY4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000478279",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 684,
                        "APPRIS": "",
                        "uniprot": "E7EVB7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000480031",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 674,
                        "APPRIS": "",
                        "uniprot": "F8WBD6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000477119",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 568,
                        "APPRIS": "",
                        "uniprot": "C9J8U3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "CCDS75827",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000309615",
                        "refseq": "NM_001195254",
                        "biotype": "protein_coding",
                        "transcriptLength": 1859,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "CCDS47956",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000436040",
                        "refseq": "NM_001195249",
                        "biotype": "protein_coding",
                        "transcriptLength": 2168,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "CCDS47956",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000436040",
                        "refseq": "NM_175073",
                        "biotype": "protein_coding",
                        "transcriptLength": 2168,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137074",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000379813",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1121,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MRW7"
                    }
                ],
                "primary_transcript": "ENST00000379819"
            },
            "entity_type": "gene",
            "entity_name": "APTX",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Ataxia with Oculomotor Apraxia",
                "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ARSA",
                "omim_gene": "607574",
                "gene_name": "arylsulfatase A",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100299",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000608497",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 576,
                        "APPRIS": "",
                        "uniprot": "V9GYR0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000100299",
                        "CDSid": "CCDS14100",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000356098",
                        "refseq": "NM_001085426",
                        "biotype": "protein_coding",
                        "transcriptLength": 1895,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000100299",
                        "CDSid": "CCDS14100",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000216124",
                        "refseq": "NM_000487",
                        "biotype": "protein_coding",
                        "transcriptLength": 2050,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000100299",
                        "CDSid": "CCDS14100",
                        "TSL": "tsl2 (assigned to previous version 5)",
                        "name": "ENST00000395621",
                        "refseq": "NM_001085425",
                        "biotype": "protein_coding",
                        "transcriptLength": 1918,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000100299",
                        "CDSid": "CCDS46736",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000453344",
                        "refseq": "NM_001085428",
                        "biotype": "protein_coding",
                        "transcriptLength": 1650,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000100299",
                        "CDSid": "CCDS14100",
                        "TSL": "tsl5",
                        "name": "ENST00000395619",
                        "refseq": "NM_001085427",
                        "biotype": "protein_coding",
                        "transcriptLength": 1824,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "ARSA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Metachromatic leukodystrophy (#250100)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATCAY",
                "omim_gene": "608179",
                "gene_name": "ataxia, cerebellar, Cayman type",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000167654",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000598136",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 530,
                        "APPRIS": "",
                        "uniprot": "M0R197"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167654",
                        "CDSid": "CCDS45923",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000450849",
                        "refseq": "NM_033064",
                        "biotype": "protein_coding",
                        "transcriptLength": 5070,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000167654",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000597739",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1957,
                        "APPRIS": "",
                        "uniprot": "M0R225"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167654",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000600960",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2904,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000301260"
            },
            "entity_type": "gene",
            "entity_name": "ATCAY",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia, cerebellar, Cayman type",
                "Cerebellar Ataxia, Cayman type"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATM",
                "omim_gene": "607585",
                "gene_name": "ATM serine/threonine kinase",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000149311",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000527805",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4841,
                        "APPRIS": "",
                        "uniprot": "E9PIN0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000149311",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000527891",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 595,
                        "APPRIS": "",
                        "uniprot": "E9PIQ5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000149311",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000532931",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 481,
                        "APPRIS": "",
                        "uniprot": "E9PRG7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000149311",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000530958",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5718,
                        "APPRIS": "",
                        "uniprot": "A0A087X0E9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000149311",
                        "CDSid": "CCDS31669",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000452508",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 12954,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R3C7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000149311",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000526567",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 560,
                        "APPRIS": "",
                        "uniprot": "Q6P7P1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000149311",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000601453",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 582,
                        "APPRIS": "",
                        "uniprot": "M0QXY8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000149311",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000531525",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1513,
                        "APPRIS": "",
                        "uniprot": "H0YDU7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000149311",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000529588",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 502,
                        "APPRIS": "",
                        "uniprot": "H0YEC6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000149311",
                        "CDSid": "CCDS31669",
                        "TSL": "tsl5 (assigned to previous version 6)",
                        "name": "ENST00000278616",
                        "refseq": "NM_000051",
                        "biotype": "protein_coding",
                        "transcriptLength": 13147,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R3C7"
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_135",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_135t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000278616"
            },
            "entity_type": "gene",
            "entity_name": "ATM",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "phenotypes": [
                "Ataxia-Telangiectasia",
                "Ataxia-telangiectasia,"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATP1A3",
                "omim_gene": "182350",
                "gene_name": "ATPase, Na+/K+ transporting, alpha 3 polypeptide",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000105409",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000441343",
                        "refseq": "",
                        "biotype": "non_stop_decay",
                        "transcriptLength": 3818,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MT26"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000105409",
                        "CDSid": "CCDS12594",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000302102",
                        "refseq": "NM_152296",
                        "biotype": "protein_coding",
                        "transcriptLength": 3597,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000105409",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000602133",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3458,
                        "APPRIS": "",
                        "uniprot": "M0R116"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000105409",
                        "CDSid": "CCDS58664",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000545399",
                        "refseq": "NM_001256214",
                        "biotype": "protein_coding",
                        "transcriptLength": 3618,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000105409",
                        "CDSid": "CCDS58663",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000543770",
                        "refseq": "NM_001256213",
                        "biotype": "protein_coding",
                        "transcriptLength": 3427,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000105409",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000473086",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 889,
                        "APPRIS": "",
                        "uniprot": "M0QXF2"
                    }
                ],
                "primary_transcript": "NM_001256214.1 "
            },
            "entity_type": "gene",
            "entity_name": "ATP1A3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert List"
            ],
            "phenotypes": [
                "Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)",
                "Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "C10orf2",
                "omim_gene": "606075",
                "gene_name": "chromosome 10 open reading frame 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000107815",
                        "CDSid": "CCDS7506",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000311916",
                        "refseq": "NM_021830",
                        "biotype": "protein_coding",
                        "transcriptLength": 3131,
                        "APPRIS": "principal1",
                        "uniprot": "E5KSY5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000107815",
                        "CDSid": "CCDS53570",
                        "TSL": "tsl1",
                        "name": "ENST00000370228",
                        "refseq": "NM_001163812",
                        "biotype": "protein_coding",
                        "transcriptLength": 3175,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000311916"
            },
            "entity_type": "gene",
            "entity_name": "C10orf2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Ataxia Neuropathy Spectrum Disorders (Dominant)",
                "Spinocerebellar Ataxia, Recessive"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CA8",
                "omim_gene": "114815",
                "gene_name": "carbonic anhydrase VIII",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000178538",
                        "CDSid": "CCDS6174",
                        "TSL": "tsl1",
                        "name": "ENST00000317995",
                        "refseq": "NM_004056",
                        "biotype": "protein_coding",
                        "transcriptLength": 3812,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000317995"
            },
            "entity_type": "gene",
            "entity_name": "CA8",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CACNA1A",
                "omim_gene": "601011",
                "gene_name": "calcium channel, voltage-dependent, P/Q type, alpha 1A subunit",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141837",
                        "CDSid": "CCDS45998",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000360228",
                        "refseq": "NM_001127222",
                        "biotype": "protein_coding",
                        "transcriptLength": 8392,
                        "APPRIS": "principal4",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141837",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000587525",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3765,
                        "APPRIS": "",
                        "uniprot": "K7EQ95"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141837",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000585802",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3555,
                        "APPRIS": "",
                        "uniprot": "K7EKF7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141837",
                        "CDSid": "CCDS45999",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000573710",
                        "refseq": "NM_001127221",
                        "biotype": "protein_coding",
                        "transcriptLength": 7810,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141837",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000573891",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 819,
                        "APPRIS": "",
                        "uniprot": "I3L391"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141837",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000574974",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 659,
                        "APPRIS": "",
                        "uniprot": "I3L2V5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141837",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000592864",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 744,
                        "APPRIS": "",
                        "uniprot": "K7EIF8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141837",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000614285",
                        "refseq": "NM_001174080",
                        "biotype": "protein_coding",
                        "transcriptLength": 8410,
                        "APPRIS": "alternative2",
                        "uniprot": "A0A087WW63"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141837",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000614285",
                        "refseq": "NM_023035",
                        "biotype": "protein_coding",
                        "transcriptLength": 8410,
                        "APPRIS": "alternative2",
                        "uniprot": "A0A087WW63"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141837",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000614285",
                        "refseq": "NM_000068",
                        "biotype": "protein_coding",
                        "transcriptLength": 8410,
                        "APPRIS": "alternative2",
                        "uniprot": "A0A087WW63"
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_7",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_7t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000360228"
            },
            "entity_type": "gene",
            "entity_name": "CACNA1A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Episodic ataxia, type 2",
                "Spinocerebellar ataxia 6",
                "Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CACNA1G",
                "omim_gene": "604065",
                "gene_name": "calcium channel, voltage-dependent, T type, alpha 1G subunit",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS54144",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000360761",
                        "refseq": "NM_198382",
                        "biotype": "protein_coding",
                        "transcriptLength": 7497,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS45735",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000352832",
                        "refseq": "NM_198387",
                        "biotype": "protein_coding",
                        "transcriptLength": 7848,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS54145",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000442258",
                        "refseq": "NM_198388",
                        "biotype": "protein_coding",
                        "transcriptLength": 7226,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000416767",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4899,
                        "APPRIS": "",
                        "uniprot": "A0A0B4J1X2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS45737",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000502264",
                        "refseq": "NM_198383",
                        "biotype": "protein_coding",
                        "transcriptLength": 6921,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS54143",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000512389",
                        "refseq": "NM_198378",
                        "biotype": "protein_coding",
                        "transcriptLength": 6837,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58575",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000513964",
                        "refseq": "NM_001256360",
                        "biotype": "protein_coding",
                        "transcriptLength": 6735,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58575",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000513964",
                        "refseq": "NM_001256361",
                        "biotype": "protein_coding",
                        "transcriptLength": 6735,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58575",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000513964",
                        "refseq": "NM_001256330",
                        "biotype": "protein_coding",
                        "transcriptLength": 6735,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58576",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000514717",
                        "refseq": "NM_001256332",
                        "biotype": "protein_coding",
                        "transcriptLength": 6699,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58573",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000510366",
                        "refseq": "NM_001256331",
                        "biotype": "protein_coding",
                        "transcriptLength": 6714,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58572",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000503485",
                        "refseq": "NM_001256329",
                        "biotype": "protein_coding",
                        "transcriptLength": 6768,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58572",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000503485",
                        "refseq": "NM_001256359",
                        "biotype": "protein_coding",
                        "transcriptLength": 6768,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS45731",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000507510",
                        "refseq": "NM_198385",
                        "biotype": "protein_coding",
                        "transcriptLength": 7014,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000511765",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 6767,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58570",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000507336",
                        "refseq": "NM_198377",
                        "biotype": "protein_coding",
                        "transcriptLength": 7116,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000506406",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 6821,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000504076",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 6788,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58574",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000513689",
                        "refseq": "NM_001256326",
                        "biotype": "protein_coding",
                        "transcriptLength": 6879,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58565",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000507609",
                        "refseq": "NM_001256327",
                        "biotype": "protein_coding",
                        "transcriptLength": 6849,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000503436",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 6752,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS54146",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000510115",
                        "refseq": "NM_198379",
                        "biotype": "protein_coding",
                        "transcriptLength": 6912,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS45732",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000515165",
                        "refseq": "NM_198384",
                        "biotype": "protein_coding",
                        "transcriptLength": 6870,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58567",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000514181",
                        "refseq": "NM_001256328",
                        "biotype": "protein_coding",
                        "transcriptLength": 6795,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS54142",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000515765",
                        "refseq": "NM_198380",
                        "biotype": "protein_coding",
                        "transcriptLength": 6981,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58569",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000514079",
                        "refseq": "NM_001256325",
                        "biotype": "protein_coding",
                        "transcriptLength": 6891,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58571",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000507896",
                        "refseq": "NM_001256334",
                        "biotype": "protein_coding",
                        "transcriptLength": 6600,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000511768",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 6731,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58566",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000505165",
                        "refseq": "NM_001256333",
                        "biotype": "protein_coding",
                        "transcriptLength": 6633,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000503607",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 6698,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS58568",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000515411",
                        "refseq": "NM_001256324",
                        "biotype": "protein_coding",
                        "transcriptLength": 6960,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS45733",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000429973",
                        "refseq": "NM_198386",
                        "biotype": "protein_coding",
                        "transcriptLength": 7120,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS45730",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000359106",
                        "refseq": "NM_018896",
                        "biotype": "protein_coding",
                        "transcriptLength": 7648,
                        "APPRIS": "principal4",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS45736",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000358244",
                        "refseq": "NM_198376",
                        "biotype": "protein_coding",
                        "transcriptLength": 7030,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000570567",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1255,
                        "APPRIS": "",
                        "uniprot": "I3L2W8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000006283",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000506520",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1478,
                        "APPRIS": "",
                        "uniprot": "H0YAN0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000006283",
                        "CDSid": "CCDS45734",
                        "TSL": "tsl5 (assigned to previous version 6)",
                        "name": "ENST00000354983",
                        "refseq": "NM_198396",
                        "biotype": "protein_coding",
                        "transcriptLength": 8138,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "CACNA1G",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CAMTA1",
                "omim_gene": "611501",
                "gene_name": "calmodulin binding transcription activator 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000171735",
                        "CDSid": "CCDS30576",
                        "TSL": "tsl1 (assigned to previous version 9)",
                        "name": "ENST00000303635",
                        "refseq": "NM_015215",
                        "biotype": "protein_coding",
                        "transcriptLength": 8444,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000171735",
                        "CDSid": "CCDS55574",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000473578",
                        "refseq": "NM_001195563",
                        "biotype": "protein_coding",
                        "transcriptLength": 567,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000171735",
                        "CDSid": "CCDS55575",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000557126",
                        "refseq": "NM_001242701",
                        "biotype": "protein_coding",
                        "transcriptLength": 486,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000171735",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 4)",
                        "name": "ENST00000467404",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 546,
                        "APPRIS": "",
                        "uniprot": "G3V297"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000171735",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000461311",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 431,
                        "APPRIS": "",
                        "uniprot": "H0YJV1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000171735",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000486138",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 392,
                        "APPRIS": "",
                        "uniprot": "H0YJY7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000171735",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000482934",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 743,
                        "APPRIS": "",
                        "uniprot": "H0YJG5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000171735",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000495233",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3247,
                        "APPRIS": "",
                        "uniprot": "H0YJK7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000171735",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000490905",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2053,
                        "APPRIS": "",
                        "uniprot": "H0YJR7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000171735",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000476864",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 714,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000303635"
            },
            "entity_type": "gene",
            "entity_name": "CAMTA1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebellarataxia,nonprogressive,withmentalretardation,614756  3"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CASK",
                "omim_gene": "300172",
                "gene_name": "calcium/calmodulin-dependent serine protein kinase (MAGUK family)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000147044",
                        "CDSid": "CCDS48094",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000421587",
                        "refseq": "NM_001126055",
                        "biotype": "protein_coding",
                        "transcriptLength": 8204,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000147044",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000378163",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4411,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000147044",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000378179",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2809,
                        "APPRIS": "",
                        "uniprot": "Q5JS72"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000147044",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000378168",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2017,
                        "APPRIS": "",
                        "uniprot": "Q5JS79"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000147044",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000378158",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3848,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000147044",
                        "CDSid": "CCDS14257",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000378166",
                        "refseq": "NM_003688",
                        "biotype": "protein_coding",
                        "transcriptLength": 3123,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000147044",
                        "CDSid": "CCDS48095",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000442742",
                        "refseq": "NM_001126054",
                        "biotype": "protein_coding",
                        "transcriptLength": 2800,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000147044",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000378154",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2494,
                        "APPRIS": "",
                        "uniprot": "Q5JS74"
                    }
                ],
                "primary_transcript": "ENST00000378163"
            },
            "entity_type": "gene",
            "entity_name": "CASK",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CHMP1A",
                "omim_gene": "164010",
                "gene_name": "charged multivesicular body protein 1A",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131165",
                        "CDSid": "CCDS45552",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000397901",
                        "refseq": "NM_002768",
                        "biotype": "protein_coding",
                        "transcriptLength": 2483,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131165",
                        "CDSid": "CCDS45552",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000397901",
                        "refseq": "NM_001083314",
                        "biotype": "protein_coding",
                        "transcriptLength": 2483,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131165",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000535997",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2295,
                        "APPRIS": "",
                        "uniprot": "F5H875"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131165",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000550102",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 803,
                        "APPRIS": "",
                        "uniprot": "F8VVT7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131165",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000549328",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1003,
                        "APPRIS": "",
                        "uniprot": "F8VUA2"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "CHMP1A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 8 (#614961)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CLN6",
                "omim_gene": "606725",
                "gene_name": "ceroid-lipofuscinosis, neuronal 6, late infantile, variant",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128973",
                        "CDSid": "CCDS10227",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000249806",
                        "refseq": "NM_017882",
                        "biotype": "protein_coding",
                        "transcriptLength": 2242,
                        "APPRIS": "principal2",
                        "uniprot": "A0A024R601"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128973",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000565471",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1074,
                        "APPRIS": "alternative2",
                        "uniprot": "H3BTY4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000128973",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000567060",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 945,
                        "APPRIS": "alternative2",
                        "uniprot": "H3BNF1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128973",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000566347",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 981,
                        "APPRIS": "alternative2",
                        "uniprot": "H3BUT1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128973",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000538696",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1343,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128973",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000564752",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 900,
                        "APPRIS": "alternative2",
                        "uniprot": "H3BUV4"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "CLN6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "COX20",
                "omim_gene": "614698",
                "gene_name": "COX20 cytochrome c oxidase assembly factor",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000203667",
                        "CDSid": "CCDS31080",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000411948",
                        "refseq": "NM_198076",
                        "biotype": "protein_coding",
                        "transcriptLength": 2631,
                        "APPRIS": "principal2",
                        "uniprot": "B3KM21"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000203667",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000366528",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 568,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000366528"
            },
            "entity_type": "gene",
            "entity_name": "COX20",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CP",
                "omim_gene": "117700",
                "gene_name": "ceruloplasmin (ferroxidase)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000047457",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000481169",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 3411,
                        "APPRIS": "",
                        "uniprot": "E9PFZ2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000047457",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000479771",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1150,
                        "APPRIS": "",
                        "uniprot": "H7C5N5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000047457",
                        "CDSid": "CCDS3141",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000264613",
                        "refseq": "NM_000096",
                        "biotype": "protein_coding",
                        "transcriptLength": 4676,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000047457",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000494544",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2806,
                        "APPRIS": "",
                        "uniprot": "H7C5R1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000047457",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000455472",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 571,
                        "APPRIS": "",
                        "uniprot": "D6RE86"
                    }
                ],
                "primary_transcript": "ENST00000264613"
            },
            "entity_type": "gene",
            "entity_name": "CP",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebellar ataxia,"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CWF19L1",
                "omim_gene": "616120",
                "gene_name": "CWF19-like 1, cell cycle control (S. pombe)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000095485",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000370379",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 815,
                        "APPRIS": "",
                        "uniprot": "X6R7M0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000095485",
                        "CDSid": "CCDS7489",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000354105",
                        "refseq": "NM_001303405",
                        "biotype": "protein_coding",
                        "transcriptLength": 2633,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000095485",
                        "CDSid": "CCDS7489",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000354105",
                        "refseq": "NM_018294",
                        "biotype": "protein_coding",
                        "transcriptLength": 2633,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "CWF19L1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CYP27A1",
                "omim_gene": "606530",
                "gene_name": "cytochrome P450, family 27, subfamily A, polypeptide 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000135929",
                        "CDSid": "CCDS2423",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000258415",
                        "refseq": "NM_000784",
                        "biotype": "protein_coding",
                        "transcriptLength": 2286,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135929",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000445971",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 903,
                        "APPRIS": "",
                        "uniprot": "F8WD90"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135929",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000411688",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 799,
                        "APPRIS": "",
                        "uniprot": "C9J1K5"
                    }
                ],
                "primary_transcript": "ENST00000258415"
            },
            "entity_type": "gene",
            "entity_name": "CYP27A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CYP2U1",
                "omim_gene": "610670",
                "gene_name": "cytochrome P450, family 2, subfamily U, polypeptide 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000155016",
                        "CDSid": "CCDS34047",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000332884",
                        "refseq": "NM_183075",
                        "biotype": "protein_coding",
                        "transcriptLength": 4944,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000155016",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000508453",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3125,
                        "APPRIS": "",
                        "uniprot": "E9PGH5"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "CYP2U1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Autosomal recessive spastic paraplegia 56 (#615030)   complex form of disorder, ataxia not yet identified in affected patients."
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "DARS2",
                "omim_gene": "610956",
                "gene_name": "aspartyl-tRNA synthetase 2, mitochondrial",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000117593",
                        "CDSid": "CCDS1311",
                        "TSL": "tsl1",
                        "name": "ENST00000361951",
                        "refseq": "NM_018122",
                        "biotype": "protein_coding",
                        "transcriptLength": 3506,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R8Z9"
                    }
                ],
                "primary_transcript": "ENST00000361951"
            },
            "entity_type": "gene",
            "entity_name": "DARS2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "DDHD2",
                "omim_gene": "615003",
                "gene_name": "DDHD domain containing 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000527834",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 568,
                        "APPRIS": "",
                        "uniprot": "E9PQY9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000085788",
                        "CDSid": "CCDS34883",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000397166",
                        "refseq": "NM_015214",
                        "biotype": "protein_coding",
                        "transcriptLength": 4921,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000533100",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 683,
                        "APPRIS": "",
                        "uniprot": "E9PPH8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000526237",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 697,
                        "APPRIS": "",
                        "uniprot": "E9PPN2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000528358",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 600,
                        "APPRIS": "",
                        "uniprot": "E9PM60"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000529642",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 358,
                        "APPRIS": "",
                        "uniprot": "E9PP45"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000532222",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 696,
                        "APPRIS": "",
                        "uniprot": "E9PKE6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000085788",
                        "CDSid": "CCDS34883",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000520272",
                        "refseq": "NM_001164232",
                        "biotype": "protein_coding",
                        "transcriptLength": 4532,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000527415",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1124,
                        "APPRIS": "",
                        "uniprot": "E9PIF5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000532106",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 548,
                        "APPRIS": "",
                        "uniprot": "H0YF30"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000517385",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4113,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000529845",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 945,
                        "APPRIS": "",
                        "uniprot": "E9PK57"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000526144",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 774,
                        "APPRIS": "",
                        "uniprot": "H0YF17"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000085788",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000528613",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 604,
                        "APPRIS": "",
                        "uniprot": "H0YE64"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "DDHD2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Autosomal recessive paraplegia 54 (#615033). Complex form of disease   ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132."
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "DNMT1",
                "omim_gene": "126375",
                "gene_name": "DNA (cytosine-5-)-methyltransferase 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000592705",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 5215,
                        "APPRIS": "",
                        "uniprot": "K7EMU8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000130816",
                        "CDSid": "CCDS12228",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000340748",
                        "refseq": "NM_001379",
                        "biotype": "protein_coding",
                        "transcriptLength": 5408,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000588913",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1775,
                        "APPRIS": "",
                        "uniprot": "K7ENW7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000130816",
                        "CDSid": "CCDS45958",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000359526",
                        "refseq": "NM_001130823",
                        "biotype": "protein_coding",
                        "transcriptLength": 5206,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000586799",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 672,
                        "APPRIS": "",
                        "uniprot": "K7EP77"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000586988",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 711,
                        "APPRIS": "",
                        "uniprot": "K7EIZ6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000588952",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 841,
                        "APPRIS": "",
                        "uniprot": "K7ENQ6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000588118",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 973,
                        "APPRIS": "",
                        "uniprot": "K7EJL0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000592342",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 636,
                        "APPRIS": "",
                        "uniprot": "K7ELB1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000592054",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 591,
                        "APPRIS": "",
                        "uniprot": "K7ERQ1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000590619",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 231,
                        "APPRIS": "",
                        "uniprot": "K7ER10"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000586800",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 583,
                        "APPRIS": "",
                        "uniprot": "K7EKC3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000130816",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000540357",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4916,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_362",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_362t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000359526"
            },
            "entity_type": "gene",
            "entity_name": "DNMT1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "EIF2B1",
                "omim_gene": "606686",
                "gene_name": "eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000111361",
                        "CDSid": "CCDS31924",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000424014",
                        "refseq": "NM_001414",
                        "biotype": "protein_coding",
                        "transcriptLength": 2477,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000111361",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000539951",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 848,
                        "APPRIS": "",
                        "uniprot": "F5H0D0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000111361",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000534960",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 618,
                        "APPRIS": "",
                        "uniprot": "H0YGG4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000111361",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000537073",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1768,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000424014"
            },
            "entity_type": "gene",
            "entity_name": "EIF2B1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease",
                "Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "EIF2B2",
                "omim_gene": "606454",
                "gene_name": "eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000119718",
                        "CDSid": "CCDS9836",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000266126",
                        "refseq": "NM_014239",
                        "biotype": "protein_coding",
                        "transcriptLength": 4314,
                        "APPRIS": "principal1",
                        "uniprot": "Q53XC2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000119718",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000556028",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 831,
                        "APPRIS": "",
                        "uniprot": "G3V5E5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000119718",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000553401",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 896,
                        "APPRIS": "",
                        "uniprot": "H0YJJ8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000119718",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000554748",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 551,
                        "APPRIS": "",
                        "uniprot": "H0YK01"
                    }
                ],
                "primary_transcript": "ENST00000266126"
            },
            "entity_type": "gene",
            "entity_name": "EIF2B2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "EIF2B3",
                "omim_gene": "606273",
                "gene_name": "eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000070785",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000439363",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 892,
                        "APPRIS": "",
                        "uniprot": "H0Y580"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000070785",
                        "CDSid": "CCDS517",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000360403",
                        "refseq": "NM_020365",
                        "biotype": "protein_coding",
                        "transcriptLength": 1659,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000070785",
                        "CDSid": "CCDS53313",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000372183",
                        "refseq": "NM_001166588",
                        "biotype": "protein_coding",
                        "transcriptLength": 1457,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000070785",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000480675",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1082,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000070785",
                        "CDSid": "CCDS72775",
                        "TSL": "tsl1 (assigned to previous version 2)",
                        "name": "ENST00000620860",
                        "refseq": "NM_001261418",
                        "biotype": "protein_coding",
                        "transcriptLength": 1923,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000360403"
            },
            "entity_type": "gene",
            "entity_name": "EIF2B3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "EIF2B4",
                "omim_gene": "606687",
                "gene_name": "eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000115211",
                        "CDSid": "CCDS33164",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000347454",
                        "refseq": "NM_001034116",
                        "biotype": "protein_coding",
                        "transcriptLength": 1792,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000115211",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000405940",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1570,
                        "APPRIS": "",
                        "uniprot": "F8W8L6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000115211",
                        "CDSid": "CCDS46244",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000445933",
                        "refseq": "NM_015636",
                        "biotype": "protein_coding",
                        "transcriptLength": 1608,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000115211",
                        "CDSid": "CCDS46245",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000451130",
                        "refseq": "NM_172195",
                        "biotype": "protein_coding",
                        "transcriptLength": 1633,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000115211",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000493344",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1949,
                        "APPRIS": "alternative2",
                        "uniprot": "E7ERK9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000115211",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000417567",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 761,
                        "APPRIS": "",
                        "uniprot": "H7C2L8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000115211",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000418146",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 742,
                        "APPRIS": "",
                        "uniprot": "F8WEV6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000115211",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000622434",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1771,
                        "APPRIS": "",
                        "uniprot": "A0A087WW69"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000115211",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000616081",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1754,
                        "APPRIS": "alternative2",
                        "uniprot": "A0A087WTA5"
                    }
                ],
                "primary_transcript": "ENST00000493344"
            },
            "entity_type": "gene",
            "entity_name": "EIF2B4",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "EIF2B5",
                "omim_gene": "603945",
                "gene_name": "eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000145191",
                        "CDSid": "CCDS3252",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000273783",
                        "refseq": "NM_003907",
                        "biotype": "protein_coding",
                        "transcriptLength": 2655,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000145191",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000432569",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 984,
                        "APPRIS": "",
                        "uniprot": "C9JRD9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000145191",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000444495",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2389,
                        "APPRIS": "",
                        "uniprot": "E9PC74"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000145191",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000432982",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 597,
                        "APPRIS": "",
                        "uniprot": "H7C2X0"
                    }
                ],
                "primary_transcript": "ENST00000273783"
            },
            "entity_type": "gene",
            "entity_name": "EIF2B5",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "EXOSC3",
                "omim_gene": "606489",
                "gene_name": "exosome component 3",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000107371",
                        "CDSid": "CCDS43805",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000465229",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1625,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000107371",
                        "CDSid": "CCDS35016",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000327304",
                        "refseq": "NM_016042",
                        "biotype": "protein_coding",
                        "transcriptLength": 1806,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000107371",
                        "CDSid": "CCDS43805",
                        "TSL": "tsl2",
                        "name": "ENST00000396521",
                        "refseq": "NM_001002269",
                        "biotype": "protein_coding",
                        "transcriptLength": 768,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "EXOSC3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "FGF14",
                "omim_gene": "601515",
                "gene_name": "fibroblast growth factor 14",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102466",
                        "CDSid": "CCDS9500",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000376131",
                        "refseq": "NM_175929",
                        "biotype": "protein_coding",
                        "transcriptLength": 12882,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102466",
                        "CDSid": "CCDS9501",
                        "TSL": "tsl1",
                        "name": "ENST00000376143",
                        "refseq": "NM_004115",
                        "biotype": "protein_coding",
                        "transcriptLength": 744,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000376131"
            },
            "entity_type": "gene",
            "entity_name": "FGF14",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 27"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "FLVCR1",
                "omim_gene": "609144",
                "gene_name": "feline leukemia virus subgroup C cellular receptor 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000162769",
                        "CDSid": "CCDS1510",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000366971",
                        "refseq": "NM_014053",
                        "biotype": "protein_coding",
                        "transcriptLength": 5939,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000162769",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000419102",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1108,
                        "APPRIS": "alternative2",
                        "uniprot": "H7C3Z2"
                    }
                ],
                "primary_transcript": "ENST00000366971"
            },
            "entity_type": "gene",
            "entity_name": "FLVCR1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia, posterior column, with retinitis pigmentosa,",
                "Posterior Column Ataxia with Retinitis Pigmentosa"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "FMR1",
                "omim_gene": "309550",
                "gene_name": "fragile X mental retardation 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "CCDS76039",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000440235",
                        "refseq": "NM_001185082",
                        "biotype": "protein_coding",
                        "transcriptLength": 4271,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000616614",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1409,
                        "APPRIS": "",
                        "uniprot": "A0A087WWU4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000370477",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3437,
                        "APPRIS": "",
                        "uniprot": "A8MQB8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000334557",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1295,
                        "APPRIS": "",
                        "uniprot": "Q8IXW7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000439526",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3699,
                        "APPRIS": "",
                        "uniprot": "G3V0J0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "CCDS14682",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000370475",
                        "refseq": "NM_002024",
                        "biotype": "protein_coding",
                        "transcriptLength": 4308,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000621447",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1832,
                        "APPRIS": "",
                        "uniprot": "A0A087X1M7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000495717",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 776,
                        "APPRIS": "",
                        "uniprot": "A0A087WY29"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000370470",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1774,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000475038",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 571,
                        "APPRIS": "",
                        "uniprot": "A0A087WWR6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000463120",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 470,
                        "APPRIS": "",
                        "uniprot": "A0A087WXC0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "CCDS55519",
                        "TSL": "tsl1 (assigned to previous version 10)",
                        "name": "ENST00000218200",
                        "refseq": "NM_001185076",
                        "biotype": "protein_coding",
                        "transcriptLength": 4333,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "CCDS55518",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000370471",
                        "refseq": "NM_001185075",
                        "biotype": "protein_coding",
                        "transcriptLength": 4125,
                        "APPRIS": "",
                        "uniprot": "G8JLE9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "CCDS55518",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000370471",
                        "refseq": "NM_001185081",
                        "biotype": "protein_coding",
                        "transcriptLength": 4125,
                        "APPRIS": "",
                        "uniprot": "G8JLE9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000621987",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1352,
                        "APPRIS": "",
                        "uniprot": "Q8IXW7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 2)",
                        "name": "ENST00000621453",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1864,
                        "APPRIS": "alternative2",
                        "uniprot": "R9WNI0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000102081",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000616382",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1648,
                        "APPRIS": "",
                        "uniprot": "A0A087WXI3"
                    }
                ],
                "primary_transcript": "ENST00000370475"
            },
            "entity_type": "gene",
            "entity_name": "FMR1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)",
                "FragileXtremor/ataxiasyndrome,300623",
                "males with a tremor phenotype"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "FOLR1",
                "omim_gene": "136430",
                "gene_name": "folate receptor 1 (adult)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000110195",
                        "CDSid": "CCDS8211",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000312293",
                        "refseq": "NM_016725",
                        "biotype": "protein_coding",
                        "transcriptLength": 1107,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R5H1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000110195",
                        "CDSid": "CCDS8211",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000393681",
                        "refseq": "NM_016724",
                        "biotype": "protein_coding",
                        "transcriptLength": 1061,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R5H1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000110195",
                        "CDSid": "CCDS8211",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000393679",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1331,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R5H1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000110195",
                        "CDSid": "CCDS8211",
                        "TSL": "tsl1",
                        "name": "ENST00000393676",
                        "refseq": "NM_000802",
                        "biotype": "protein_coding",
                        "transcriptLength": 947,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R5H1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000110195",
                        "CDSid": "CCDS8211",
                        "TSL": "tsl1",
                        "name": "ENST00000393676",
                        "refseq": "NM_016729",
                        "biotype": "protein_coding",
                        "transcriptLength": 947,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R5H1"
                    }
                ],
                "primary_transcript": "ENST00000312293"
            },
            "entity_type": "gene",
            "entity_name": "FOLR1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "FXN",
                "omim_gene": "606829",
                "gene_name": "frataxin",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000165060",
                        "CDSid": "CCDS6626",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000377270",
                        "refseq": "NM_000144",
                        "biotype": "protein_coding",
                        "transcriptLength": 2608,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000165060",
                        "CDSid": "CCDS43834",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000396366",
                        "refseq": "NM_181425",
                        "biotype": "protein_coding",
                        "transcriptLength": 922,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000165060",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000498653",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 856,
                        "APPRIS": "alternative2",
                        "uniprot": "C9JAX1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000165060",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000484259",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 359,
                        "APPRIS": "",
                        "uniprot": "H7C585"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000165060",
                        "CDSid": "CCDS55313",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000396364",
                        "refseq": "NM_001161706",
                        "biotype": "protein_coding",
                        "transcriptLength": 980,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000377270"
            },
            "entity_type": "gene",
            "entity_name": "FXN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Eligibility statement prior genetic testing",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "GBA2",
                "omim_gene": "609471",
                "gene_name": "glucosidase, beta (bile acid) 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000070610",
                        "CDSid": "CCDS6589",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000378103",
                        "refseq": "NM_020944",
                        "biotype": "protein_coding",
                        "transcriptLength": 3611,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000070610",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000378088",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1672,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MRV1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000070610",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000378094",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3757,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000545786"
            },
            "entity_type": "gene",
            "entity_name": "GBA2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "GOSR2",
                "omim_gene": "604027",
                "gene_name": "golgi SNAP receptor complex member 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000108433",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000576910",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1674,
                        "APPRIS": "",
                        "uniprot": "I3L4Z6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000108433",
                        "CDSid": "CCDS42355",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000393456",
                        "refseq": "NM_004287",
                        "biotype": "protein_coding",
                        "transcriptLength": 847,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000108433",
                        "CDSid": "CCDS45719",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000415811",
                        "refseq": "NM_001012511",
                        "biotype": "protein_coding",
                        "transcriptLength": 2202,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000108433",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000575949",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 643,
                        "APPRIS": "",
                        "uniprot": "I3L1K7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000108433",
                        "CDSid": "CCDS11507",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000225567",
                        "refseq": "NM_054022",
                        "biotype": "protein_coding",
                        "transcriptLength": 855,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000108433",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000572403",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 648,
                        "APPRIS": "",
                        "uniprot": "I3L3V4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000108433",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000570879",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 597,
                        "APPRIS": "alternative1",
                        "uniprot": "I3L0K1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000108433",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000573224",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 592,
                        "APPRIS": "",
                        "uniprot": "I3NI02"
                    }
                ],
                "primary_transcript": "ENST00000439730"
            },
            "entity_type": "gene",
            "entity_name": "GOSR2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "GRID2",
                "omim_gene": "602368",
                "gene_name": "glutamate receptor, ionotropic, delta 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152208",
                        "CDSid": "CCDS3637",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000282020",
                        "refseq": "NM_001510",
                        "biotype": "protein_coding",
                        "transcriptLength": 6117,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152208",
                        "CDSid": "CCDS68758",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000510992",
                        "refseq": "NM_001286838",
                        "biotype": "protein_coding",
                        "transcriptLength": 2739,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000152208",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000502699",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 768,
                        "APPRIS": "",
                        "uniprot": "D6R9W8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000152208",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000512631",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 579,
                        "APPRIS": "",
                        "uniprot": "D6R976"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000152208",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000513976",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 443,
                        "APPRIS": "",
                        "uniprot": "H0YA12"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152208",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 2)",
                        "name": "ENST00000611049",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4844,
                        "APPRIS": "",
                        "uniprot": "A0A087X043"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "GRID2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 25841024"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Autosomal recessive spinocerebellar ataxia 18 (#616204)",
                "Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015."
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "GRM1",
                "omim_gene": "604473",
                "gene_name": "glutamate receptor, metabotropic 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152822",
                        "CDSid": "CCDS47497",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000492807",
                        "refseq": "NM_001278065",
                        "biotype": "protein_coding",
                        "transcriptLength": 6836,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152822",
                        "CDSid": "CCDS47497",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000492807",
                        "refseq": "NM_001278066",
                        "biotype": "protein_coding",
                        "transcriptLength": 6836,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152822",
                        "CDSid": "CCDS64548",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000355289",
                        "refseq": "NM_001278067",
                        "biotype": "protein_coding",
                        "transcriptLength": 3874,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152822",
                        "CDSid": "CCDS5209",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000282753",
                        "refseq": "NM_001278064",
                        "biotype": "protein_coding",
                        "transcriptLength": 6622,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152822",
                        "CDSid": "CCDS47497",
                        "TSL": "tsl1",
                        "name": "ENST00000507907",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3756,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000152822",
                        "CDSid": "CCDS5209",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000361719",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 6754,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000361719"
            },
            "entity_type": "gene",
            "entity_name": "GRM1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia, autosomal recessive 13"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "HEXA",
                "omim_gene": "606869",
                "gene_name": "hexosaminidase A (alpha polypeptide)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000213614",
                        "CDSid": "CCDS10243",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000268097",
                        "refseq": "NM_000520",
                        "biotype": "protein_coding",
                        "transcriptLength": 5252,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000567411",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1743,
                        "APPRIS": "",
                        "uniprot": "H3BQ04"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000566304",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1795,
                        "APPRIS": "alternative2",
                        "uniprot": "H3BP20"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000567027",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1353,
                        "APPRIS": "",
                        "uniprot": "H3BU85"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000567159",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1582,
                        "APPRIS": "alternative1",
                        "uniprot": "H3BS10"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000563762",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1174,
                        "APPRIS": "",
                        "uniprot": "H3BRP6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000566672",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1397,
                        "APPRIS": "",
                        "uniprot": "H3BT62"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000569410",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1351,
                        "APPRIS": "",
                        "uniprot": "H3BTD4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000568260",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 674,
                        "APPRIS": "",
                        "uniprot": "H3BVH8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000213614",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000567213",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1000,
                        "APPRIS": "",
                        "uniprot": "A0A087WTY2"
                    }
                ],
                "primary_transcript": "ENST00000566304"
            },
            "entity_type": "gene",
            "entity_name": "HEXA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "HEXB",
                "omim_gene": "606873",
                "gene_name": "hexosaminidase B (beta polypeptide)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000049860",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000511181",
                        "refseq": "NM_001292004",
                        "biotype": "protein_coding",
                        "transcriptLength": 2021,
                        "APPRIS": "",
                        "uniprot": "Q5URX0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000049860",
                        "CDSid": "CCDS4022",
                        "TSL": "tsl1 (assigned to previous version 9)",
                        "name": "ENST00000261416",
                        "refseq": "NM_000521",
                        "biotype": "protein_coding",
                        "transcriptLength": 1901,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000049860",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000513336",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 720,
                        "APPRIS": "",
                        "uniprot": "H0Y9B6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000049860",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000503312",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 756,
                        "APPRIS": "",
                        "uniprot": "H0YA83"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000049860",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000509579",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 806,
                        "APPRIS": "",
                        "uniprot": "D6REQ8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000049860",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000505859",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 604,
                        "APPRIS": "",
                        "uniprot": "H0Y9M3"
                    }
                ],
                "primary_transcript": "ENST00000261416"
            },
            "entity_type": "gene",
            "entity_name": "HEXB",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ITPR1",
                "omim_gene": "147265",
                "gene_name": "inositol 1,4,5-trisphosphate receptor, type 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000150995",
                        "CDSid": "CCDS46740",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000357086",
                        "refseq": "NM_001099952",
                        "biotype": "protein_coding",
                        "transcriptLength": 9858,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000150995",
                        "CDSid": "CCDS54550",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000456211",
                        "refseq": "NM_002222",
                        "biotype": "protein_coding",
                        "transcriptLength": 9813,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000150995",
                        "CDSid": "CCDS54551",
                        "TSL": "tsl1",
                        "name": "ENST00000443694",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 9402,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000150995",
                        "CDSid": "CCDS54551",
                        "TSL": "tsl5 (assigned to previous version 10)",
                        "name": "ENST00000302640",
                        "refseq": "NM_001168272",
                        "biotype": "protein_coding",
                        "transcriptLength": 10197,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000150995",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 8)",
                        "name": "ENST00000354582",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 10242,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000150995",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000544951",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4131,
                        "APPRIS": "",
                        "uniprot": "B7ZMI3"
                    }
                ],
                "primary_transcript": "ENST00000302640"
            },
            "entity_type": "gene",
            "entity_name": "ITPR1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 29",
                "Spinocerebellar ataxia 15"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "KCNA1",
                "omim_gene": "176260",
                "gene_name": "potassium channel, voltage gated shaker related subfamily A, member 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000111262",
                        "CDSid": "CCDS8535",
                        "TSL": "tsl4",
                        "name": "ENST00000382545",
                        "refseq": "NM_000217",
                        "biotype": "protein_coding",
                        "transcriptLength": 7976,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000382545"
            },
            "entity_type": "gene",
            "entity_name": "KCNA1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "phenotypes": [
                "Episodic ataxia/myokymia syndrome,"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "KCNC3",
                "omim_gene": "176264",
                "gene_name": "potassium channel, voltage gated Shaw related subfamily C, member 3",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131398",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000376959",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5447,
                        "APPRIS": "alternative2",
                        "uniprot": "E7ETH1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131398",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000474951",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3347,
                        "APPRIS": "",
                        "uniprot": "E9PQY4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131398",
                        "CDSid": "CCDS12793",
                        "TSL": "tsl1",
                        "name": "ENST00000477616",
                        "refseq": "NM_004977",
                        "biotype": "protein_coding",
                        "transcriptLength": 3176,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000477616"
            },
            "entity_type": "gene",
            "entity_name": "KCNC3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 13"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "KCND3",
                "omim_gene": "605411",
                "gene_name": "potassium channel, voltage gated Shal related subfamily D, member 3",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000171385",
                        "CDSid": "CCDS844",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000369697",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 7396,
                        "APPRIS": "alternative1",
                        "uniprot": "A0A024R0C6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000171385",
                        "CDSid": "CCDS843",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000315987",
                        "refseq": "NM_004980",
                        "biotype": "protein_coding",
                        "transcriptLength": 2716,
                        "APPRIS": "principal4",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000171385",
                        "CDSid": "CCDS844",
                        "TSL": "tsl5",
                        "name": "ENST00000302127",
                        "refseq": "NM_172198",
                        "biotype": "protein_coding",
                        "transcriptLength": 2659,
                        "APPRIS": "alternative1",
                        "uniprot": "A0A024R0C6"
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_445",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_445t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000315987"
            },
            "entity_type": "gene",
            "entity_name": "KCND3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellarataxia19,607346"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "KCNJ10",
                "omim_gene": "602208",
                "gene_name": "potassium channel, inwardly rectifying subfamily J, member 10",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000177807",
                        "CDSid": "CCDS1193",
                        "TSL": "tsl1",
                        "name": "ENST00000368089",
                        "refseq": "NM_002241",
                        "biotype": "protein_coding",
                        "transcriptLength": 5293,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000368089"
            },
            "entity_type": "gene",
            "entity_name": "KCNJ10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "phenotypes": [
                "Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "KIF1C",
                "omim_gene": "603060",
                "gene_name": "kinesin family member 1C",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000129250",
                        "CDSid": "CCDS11065",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000320785",
                        "refseq": "NM_006612",
                        "biotype": "protein_coding",
                        "transcriptLength": 7919,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000129250",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000574165",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 799,
                        "APPRIS": "",
                        "uniprot": "I3L1B1"
                    }
                ],
                "primary_transcript": "ENST00000320785"
            },
            "entity_type": "gene",
            "entity_name": "KIF1C",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spastic ataxia 2,autosomal recessive"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "MARS2",
                "omim_gene": "609728",
                "gene_name": "methionyl-tRNA synthetase 2, mitochondrial",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000247626",
                        "CDSid": "CCDS33358",
                        "TSL": "tslNA",
                        "name": "ENST00000282276",
                        "refseq": "NM_138395",
                        "biotype": "protein_coding",
                        "transcriptLength": 3019,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000282276"
            },
            "entity_type": "gene",
            "entity_name": "MARS2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PubMed: 22448145"
            ],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spastic ataxia 3, autosomal recessive"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "MMACHC",
                "omim_gene": "609831",
                "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000132763",
                        "CDSid": "CCDS41324",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000401061",
                        "refseq": "NM_015506",
                        "biotype": "protein_coding",
                        "transcriptLength": 5296,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000132763",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000616135",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1510,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "MMACHC",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 26283149"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert review"
            ],
            "phenotypes": [
                "Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "MRE11A",
                "omim_gene": "600814",
                "gene_name": "MRE11 meiotic recombination 11 homolog A (S. cerevisiae)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000020922",
                        "CDSid": "CCDS8299",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000323929",
                        "refseq": "NM_005591",
                        "biotype": "protein_coding",
                        "transcriptLength": 6897,
                        "APPRIS": "principal2",
                        "uniprot": "A0A024R395"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000020922",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 5)",
                        "name": "ENST00000407439",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2684,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000020922",
                        "CDSid": "CCDS8298",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000323977",
                        "refseq": "NM_005590",
                        "biotype": "protein_coding",
                        "transcriptLength": 2588,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000020922",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 6)",
                        "name": "ENST00000393241",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2604,
                        "APPRIS": "alternative1",
                        "uniprot": "F8W7U8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000020922",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000540013",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1212,
                        "APPRIS": "",
                        "uniprot": "F5GXT0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000020922",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000536754",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 572,
                        "APPRIS": "",
                        "uniprot": "F5H256"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000020922",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000538923",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 558,
                        "APPRIS": "",
                        "uniprot": "F5H742"
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_85",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_85t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000407439"
            },
            "entity_type": "gene",
            "entity_name": "MRE11A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Ataxia-Telangiectasia-Like Disorder",
                "Ataxia-telangiectasia-like disorder"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "MT-ATP6",
                "omim_gene": "516060",
                "gene_name": "mitochondrially encoded ATP synthase 6",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000198899",
                        "CDSid": "",
                        "TSL": "tslNA",
                        "name": "ENST00000361899",
                        "refseq": "4508",
                        "biotype": "protein_coding",
                        "transcriptLength": 681,
                        "APPRIS": "principal1",
                        "uniprot": "Q0ZFE3"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "MT-ATP6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Neuropathy, Ataxia, and Retinitis Pigmentosa"
            ],
            "mode_of_inheritance": "MITOCHONDRIAL",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "NPC1",
                "omim_gene": "607623",
                "gene_name": "Niemann-Pick disease, type C1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141458",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 4)",
                        "name": "ENST00000591107",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 890,
                        "APPRIS": "",
                        "uniprot": "K7ERW2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141458",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000590723",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 755,
                        "APPRIS": "",
                        "uniprot": "K7EIH7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141458",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000593280",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1607,
                        "APPRIS": "",
                        "uniprot": "K7ENZ0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141458",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000586150",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 571,
                        "APPRIS": "",
                        "uniprot": "K7ERM4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141458",
                        "CDSid": "CCDS11878",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000269228",
                        "refseq": "NM_000271",
                        "biotype": "protein_coding",
                        "transcriptLength": 5157,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141458",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000591051",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3171,
                        "APPRIS": "",
                        "uniprot": "K7EQ23"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "NPC1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Niemann-Pick disease types C1 and D (#257220)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "NPC2",
                "omim_gene": "601015",
                "gene_name": "Niemann-Pick disease, type C2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000119655",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000434013",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 875,
                        "APPRIS": "",
                        "uniprot": "E7EMS2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000119655",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000541064",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1436,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000119655",
                        "CDSid": "CCDS32121",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000555619",
                        "refseq": "NM_006432",
                        "biotype": "protein_coding",
                        "transcriptLength": 1035,
                        "APPRIS": "principal2",
                        "uniprot": "A0A024R6C0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000119655",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000554482",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 583,
                        "APPRIS": "",
                        "uniprot": "H0YJE2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000119655",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 4)",
                        "name": "ENST00000238633",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 796,
                        "APPRIS": "alternative1",
                        "uniprot": "J3KMY5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000119655",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000553490",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 729,
                        "APPRIS": "",
                        "uniprot": "G3V3D1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000119655",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000556009",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 699,
                        "APPRIS": "",
                        "uniprot": "H0YIZ1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000119655",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000557510",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1029,
                        "APPRIS": "",
                        "uniprot": "G3V3E8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000119655",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000555592",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 469,
                        "APPRIS": "",
                        "uniprot": "G3V2V8"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "NPC2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Niemann-Pick disease type C2 (#607625)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "OPHN1",
                "omim_gene": "300127",
                "gene_name": "oligophrenin 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000079482",
                        "CDSid": "CCDS14388",
                        "TSL": "tsl1",
                        "name": "ENST00000355520",
                        "refseq": "NM_002547",
                        "biotype": "protein_coding",
                        "transcriptLength": 7879,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000355520"
            },
            "entity_type": "gene",
            "entity_name": "OPHN1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PAX6",
                "omim_gene": "607108",
                "gene_name": "paired box 6",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31451",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000379132",
                        "refseq": "NM_001127612",
                        "biotype": "protein_coding",
                        "transcriptLength": 2574,
                        "APPRIS": "alternative1",
                        "uniprot": "Q66SS1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31452",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000379129",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2616,
                        "APPRIS": "principal4",
                        "uniprot": "F1T0F8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31452",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000379107",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2591,
                        "APPRIS": "principal4",
                        "uniprot": "F1T0F8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31451",
                        "TSL": "tsl1 (assigned to previous version 10)",
                        "name": "ENST00000241001",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1631,
                        "APPRIS": "alternative1",
                        "uniprot": "Q66SS1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31452",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000379115",
                        "refseq": "NM_001604",
                        "biotype": "protein_coding",
                        "transcriptLength": 1763,
                        "APPRIS": "principal4",
                        "uniprot": "F1T0F8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31451",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000379111",
                        "refseq": "NM_001258465",
                        "biotype": "protein_coding",
                        "transcriptLength": 1627,
                        "APPRIS": "alternative1",
                        "uniprot": "Q66SS1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31451",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000379123",
                        "refseq": "NM_001258464",
                        "biotype": "protein_coding",
                        "transcriptLength": 2160,
                        "APPRIS": "alternative1",
                        "uniprot": "Q66SS1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31451",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000379123",
                        "refseq": "NM_000280",
                        "biotype": "protein_coding",
                        "transcriptLength": 2160,
                        "APPRIS": "alternative1",
                        "uniprot": "Q66SS1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000007372",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000379109",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2157,
                        "APPRIS": "alternative1",
                        "uniprot": "Q66SS1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000007372",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000455099",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 497,
                        "APPRIS": "",
                        "uniprot": "B1B1J0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000007372",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000524853",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 574,
                        "APPRIS": "",
                        "uniprot": "E9PKM0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000007372",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 4)",
                        "name": "ENST00000423822",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 567,
                        "APPRIS": "",
                        "uniprot": "B1B1I9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000007372",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000438681",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 455,
                        "APPRIS": "",
                        "uniprot": "B1B1I8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000007372",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000525535",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 677,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31452",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000606377",
                        "refseq": "NM_001258463",
                        "biotype": "protein_coding",
                        "transcriptLength": 6860,
                        "APPRIS": "principal4",
                        "uniprot": "F1T0F8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000007372",
                        "CDSid": "CCDS31452",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000419022",
                        "refseq": "NM_001258462",
                        "biotype": "protein_coding",
                        "transcriptLength": 6922,
                        "APPRIS": "principal4",
                        "uniprot": "F1T0F8"
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_720",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_720t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000419022"
            },
            "entity_type": "gene",
            "entity_name": "PAX6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Aniridia, Cerebellar Ataxia, And Mental Retardation"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PDYN",
                "omim_gene": "131340",
                "gene_name": "prodynorphin",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000101327",
                        "CDSid": "CCDS13023",
                        "TSL": "tsl1",
                        "name": "ENST00000217305",
                        "refseq": "NM_001190898",
                        "biotype": "protein_coding",
                        "transcriptLength": 2555,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000101327",
                        "CDSid": "CCDS13023",
                        "TSL": "tsl1",
                        "name": "ENST00000217305",
                        "refseq": "NM_024411",
                        "biotype": "protein_coding",
                        "transcriptLength": 2555,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000101327",
                        "CDSid": "CCDS13023",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000539905",
                        "refseq": "NM_001190899",
                        "biotype": "protein_coding",
                        "transcriptLength": 2725,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000101327",
                        "CDSid": "CCDS13023",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000540134",
                        "refseq": "NM_001190900",
                        "biotype": "protein_coding",
                        "transcriptLength": 2472,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000101327",
                        "CDSid": "CCDS13023",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000540134",
                        "refseq": "NM_001190892",
                        "biotype": "protein_coding",
                        "transcriptLength": 2472,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000539905"
            },
            "entity_type": "gene",
            "entity_name": "PDYN",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 23"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PEX16",
                "omim_gene": "603360",
                "gene_name": "peroxisomal biogenesis factor 16",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000121680",
                        "CDSid": "CCDS7917",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000241041",
                        "refseq": "NM_057174",
                        "biotype": "protein_coding",
                        "transcriptLength": 1479,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000121680",
                        "CDSid": "CCDS31472",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000378750",
                        "refseq": "NM_004813",
                        "biotype": "protein_coding",
                        "transcriptLength": 1335,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000121680",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000532681",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1639,
                        "APPRIS": "alternative2",
                        "uniprot": "E9PP98"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000121680",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000533151",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 563,
                        "APPRIS": "alternative2",
                        "uniprot": "E9PMM3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000121680",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000525192",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 903,
                        "APPRIS": "alternative2",
                        "uniprot": "E9PLS4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000121680",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000525229",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 588,
                        "APPRIS": "alternative2",
                        "uniprot": "E9PMS3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000121680",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000528674",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 795,
                        "APPRIS": "alternative2",
                        "uniprot": "E9PSC6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000121680",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000529030",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 794,
                        "APPRIS": "alternative2",
                        "uniprot": "E9PQW0"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "PEX16",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Peroxisome biogenesis disorder 8B (#614877)   infantile progressive ataxia and spastic paresis",
                "Zellweger syndrome (614876)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PLA2G6",
                "omim_gene": "603604",
                "gene_name": "phospholipase A2, group VI (cytosolic, calcium-independent)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000184381",
                        "CDSid": "CCDS13967",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000332509",
                        "refseq": "NM_003560",
                        "biotype": "protein_coding",
                        "transcriptLength": 3271,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000184381",
                        "CDSid": "CCDS33645",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000402064",
                        "refseq": "NM_001199562",
                        "biotype": "protein_coding",
                        "transcriptLength": 3011,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000454670",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 741,
                        "APPRIS": "",
                        "uniprot": "H7C3P5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000448094",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1147,
                        "APPRIS": "",
                        "uniprot": "E7EX67"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000452794",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 781,
                        "APPRIS": "",
                        "uniprot": "H0Y4M7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000427114",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 688,
                        "APPRIS": "",
                        "uniprot": "H0Y6T3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000427453",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 499,
                        "APPRIS": "",
                        "uniprot": "H0Y6W2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000452542",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 591,
                        "APPRIS": "",
                        "uniprot": "H0Y7G5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000498338",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 675,
                        "APPRIS": "",
                        "uniprot": "M0R1Q9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000430886",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 656,
                        "APPRIS": "",
                        "uniprot": "B0QYE9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000436218",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 552,
                        "APPRIS": "",
                        "uniprot": "F8WEN3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000447598",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 567,
                        "APPRIS": "",
                        "uniprot": "F2Z3G2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000435484",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 612,
                        "APPRIS": "",
                        "uniprot": "F2Z3G2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 4)",
                        "name": "ENST00000417303",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 501,
                        "APPRIS": "",
                        "uniprot": "F2Z3G2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000455341",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 364,
                        "APPRIS": "",
                        "uniprot": "F8WEQ9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000184381",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000594306",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 595,
                        "APPRIS": "",
                        "uniprot": "M0R3D9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000184381",
                        "CDSid": "CCDS33645",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000335539",
                        "refseq": "NM_001004426",
                        "biotype": "protein_coding",
                        "transcriptLength": 3060,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "PLA2G6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Infantile neuroaxonal dystrophy 1 (#256600)",
                "Neurodegeneration with brain iron accumulation 2B (#610217)",
                "Parkinson disease 14 (#612953)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PMPCA",
                "omim_gene": "613036",
                "gene_name": "peptidase (mitochondrial processing) alpha",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000165688",
                        "CDSid": "CCDS35180",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000371717",
                        "refseq": "NM_015160",
                        "biotype": "protein_coding",
                        "transcriptLength": 2174,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000165688",
                        "CDSid": "CCDS65192",
                        "TSL": "tsl2 (assigned to previous version 5)",
                        "name": "ENST00000399219",
                        "refseq": "NM_001282946",
                        "biotype": "protein_coding",
                        "transcriptLength": 1987,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000165688",
                        "CDSid": "CCDS65192",
                        "TSL": "tsl2 (assigned to previous version 5)",
                        "name": "ENST00000399219",
                        "refseq": "NM_001282944",
                        "biotype": "protein_coding",
                        "transcriptLength": 1987,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000165688",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000444897",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2316,
                        "APPRIS": "",
                        "uniprot": "Q5SXN9"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "PMPCA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID:25808372"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Non-progressive cerebellar ataxia   recessive variants identified in 17 patients from four different families."
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PNKP",
                "omim_gene": "605610",
                "gene_name": "polynucleotide kinase 3'-phosphatase",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000627232",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1530,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000593946",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1723,
                        "APPRIS": "",
                        "uniprot": "M0QX49"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000600910",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1600,
                        "APPRIS": "",
                        "uniprot": "M0R3C8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000039650",
                        "CDSid": "CCDS12783",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000322344",
                        "refseq": "NM_007254",
                        "biotype": "protein_coding",
                        "transcriptLength": 2041,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000631020",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1545,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000039650",
                        "CDSid": "CCDS12783",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000596014",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1665,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000600573",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1602,
                        "APPRIS": "",
                        "uniprot": "M0QYH2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 1)",
                        "name": "ENST00000597965",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 351,
                        "APPRIS": "",
                        "uniprot": "M0R097"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000625216",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 629,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000627317",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 767,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 1)",
                        "name": "ENST00000599543",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 986,
                        "APPRIS": "",
                        "uniprot": "M0QYI1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 1)",
                        "name": "ENST00000596726",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 637,
                        "APPRIS": "",
                        "uniprot": "M0R000"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000039650",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000598020",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 534,
                        "APPRIS": "",
                        "uniprot": "M0QX49"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "PNKP",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Ataxia with oculomotor apraxia 4 (#616267)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PNPLA6",
                "omim_gene": "603197",
                "gene_name": "patatin-like phospholipase domain containing 6",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000032444",
                        "CDSid": "CCDS32891",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000221249",
                        "refseq": "NM_006702",
                        "biotype": "protein_coding",
                        "transcriptLength": 4617,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000032444",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000601668",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 753,
                        "APPRIS": "",
                        "uniprot": "M0QZK5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000032444",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000601001",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 866,
                        "APPRIS": "",
                        "uniprot": "M0R2K2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000032444",
                        "CDSid": "CCDS54207",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000545201",
                        "refseq": "NM_001166112",
                        "biotype": "protein_coding",
                        "transcriptLength": 4502,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000032444",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000596515",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 543,
                        "APPRIS": "",
                        "uniprot": "M0QZD1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000032444",
                        "CDSid": "CCDS54206",
                        "TSL": "tsl2 (assigned to previous version 5)",
                        "name": "ENST00000414982",
                        "refseq": "NM_001166111",
                        "biotype": "protein_coding",
                        "transcriptLength": 4522,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000032444",
                        "CDSid": "CCDS32891",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000450331",
                        "refseq": "NM_001166113",
                        "biotype": "protein_coding",
                        "transcriptLength": 4457,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000032444",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000600942",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 562,
                        "APPRIS": "",
                        "uniprot": "M0R2H4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000032444",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000593924",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 584,
                        "APPRIS": "",
                        "uniprot": "M0QYF5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000032444",
                        "CDSid": "CCDS59343",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000600737",
                        "refseq": "NM_001166114",
                        "biotype": "protein_coding",
                        "transcriptLength": 4195,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000032444",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000595264",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 800,
                        "APPRIS": "",
                        "uniprot": "M0R2C2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000032444",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000594551",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 574,
                        "APPRIS": "",
                        "uniprot": "M0QYT1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000032444",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000599947",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 669,
                        "APPRIS": "",
                        "uniprot": "M0QXH7"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "PNPLA6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients",
                "Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)",
                "Oliver-McFarlane syndrome (#603197)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "POLG",
                "omim_gene": "174763",
                "gene_name": "polymerase (DNA directed), gamma",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000140521",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000631044",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 4668,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000140521",
                        "CDSid": "CCDS10350",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000268124",
                        "refseq": "NM_002693",
                        "biotype": "protein_coding",
                        "transcriptLength": 4500,
                        "APPRIS": "principal1",
                        "uniprot": "E5KNU5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000140521",
                        "CDSid": "CCDS10350",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000268124",
                        "refseq": "NM_001126131",
                        "biotype": "protein_coding",
                        "transcriptLength": 4500,
                        "APPRIS": "principal1",
                        "uniprot": "E5KNU5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000140521",
                        "CDSid": "CCDS10350",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000442287",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4487,
                        "APPRIS": "principal1",
                        "uniprot": "E5KNU5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000140521",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 1)",
                        "name": "ENST00000530292",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1326,
                        "APPRIS": "",
                        "uniprot": "H0YD36"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000140521",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000530715",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 372,
                        "APPRIS": "",
                        "uniprot": "H0YCD2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000140521",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000528881",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 524,
                        "APPRIS": "",
                        "uniprot": "H0YDF1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000140521",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 1)",
                        "name": "ENST00000526314",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 700,
                        "APPRIS": "",
                        "uniprot": "H0YCV2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000140521",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000526398",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 512,
                        "APPRIS": "",
                        "uniprot": "H0YE43"
                    }
                ],
                "primary_transcript": "ENST00000268124"
            },
            "entity_type": "gene",
            "entity_name": "POLG",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PRKCG",
                "omim_gene": "176980",
                "gene_name": "protein kinase C, gamma",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000126583",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000479081",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 571,
                        "APPRIS": "",
                        "uniprot": "M0R0Z4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000126583",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000474397",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 678,
                        "APPRIS": "",
                        "uniprot": "M0R0I9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000126583",
                        "CDSid": "CCDS12867",
                        "TSL": "tsl1",
                        "name": "ENST00000263431",
                        "refseq": "NM_002739",
                        "biotype": "protein_coding",
                        "transcriptLength": 3133,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000126583",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000419486",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 560,
                        "APPRIS": "",
                        "uniprot": "H7BZ60"
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_669",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_669t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000540413"
            },
            "entity_type": "gene",
            "entity_name": "PRKCG",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 14"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PRRT2",
                "omim_gene": "614386",
                "gene_name": "proline-rich transmembrane protein 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000167371",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 1)",
                        "name": "ENST00000562148",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 564,
                        "APPRIS": "",
                        "uniprot": "H3BN10"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167371",
                        "CDSid": "CCDS10654",
                        "TSL": "tsl1 (assigned to previous version 9)",
                        "name": "ENST00000358758",
                        "refseq": "NM_145239",
                        "biotype": "protein_coding",
                        "transcriptLength": 2567,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167371",
                        "CDSid": "CCDS58445",
                        "TSL": "tsl2 (assigned to previous version 1)",
                        "name": "ENST00000567659",
                        "refseq": "NM_001256442",
                        "biotype": "protein_coding",
                        "transcriptLength": 1470,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167371",
                        "CDSid": "CCDS58446",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000300797",
                        "refseq": "NM_001256443",
                        "biotype": "protein_coding",
                        "transcriptLength": 3002,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167371",
                        "CDSid": "CCDS10654",
                        "TSL": "tsl5 (assigned to previous version 1)",
                        "name": "ENST00000572820",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2403,
                        "APPRIS": "principal1",
                        "uniprot": "I3L0R5"
                    }
                ],
                "primary_transcript": "ENST00000567659"
            },
            "entity_type": "gene",
            "entity_name": "PRRT2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "RARS2",
                "omim_gene": "611524",
                "gene_name": "arginyl-tRNA synthetase 2, mitochondrial",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000146282",
                        "CDSid": "CCDS5011",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000369536",
                        "refseq": "NM_020320",
                        "biotype": "protein_coding",
                        "transcriptLength": 1818,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000146282",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000451155",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 618,
                        "APPRIS": "",
                        "uniprot": "H0Y450"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "RARS2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia",
                "epilepsy"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "RNF170",
                "omim_gene": "614649",
                "gene_name": "ring finger protein 170",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000120925",
                        "CDSid": "CCDS55230",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000319104",
                        "refseq": "NM_001160224",
                        "biotype": "protein_coding",
                        "transcriptLength": 1866,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000120925",
                        "CDSid": "CCDS6138",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000527424",
                        "refseq": "NM_030954",
                        "biotype": "protein_coding",
                        "transcriptLength": 3880,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120925",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000240159",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2023,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000120925",
                        "CDSid": "CCDS55229",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000526349",
                        "refseq": "NM_001160225",
                        "biotype": "protein_coding",
                        "transcriptLength": 1338,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120925",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000531440",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 580,
                        "APPRIS": "",
                        "uniprot": "E9PP55"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120925",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000524954",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 195,
                        "APPRIS": "",
                        "uniprot": "E9PNG8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000120925",
                        "CDSid": "CCDS6138",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000534961",
                        "refseq": "NM_001160223",
                        "biotype": "protein_coding",
                        "transcriptLength": 4116,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000120925",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000319073",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1265,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000534961"
            },
            "entity_type": "gene",
            "entity_name": "RNF170",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia, sensory, 1, autosomal dominant"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "RNF216",
                "omim_gene": "609948",
                "gene_name": "ring finger protein 216",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000011275",
                        "CDSid": "CCDS34595",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000425013",
                        "refseq": "NM_207116",
                        "biotype": "protein_coding",
                        "transcriptLength": 5639,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000011275",
                        "CDSid": "CCDS34594",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000389902",
                        "refseq": "NM_207111",
                        "biotype": "protein_coding",
                        "transcriptLength": 3293,
                        "APPRIS": "principal4",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000011275",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000389900",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 3104,
                        "APPRIS": "",
                        "uniprot": "F8W6D1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000011275",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000411812",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 563,
                        "APPRIS": "",
                        "uniprot": "F8WDI8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000011275",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000416985",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 570,
                        "APPRIS": "",
                        "uniprot": "C9JIV3"
                    }
                ],
                "primary_transcript": "ENST00000389902"
            },
            "entity_type": "gene",
            "entity_name": "RNF216",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebellarataxiaandhypogonadotropichypogonadism,212840"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SACS",
                "omim_gene": "604490",
                "gene_name": "sacsin molecular chaperone",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000151835",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000402364",
                        "refseq": "NM_001278055",
                        "biotype": "protein_coding",
                        "transcriptLength": 15134,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000151835",
                        "CDSid": "CCDS9300",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000382292",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 15324,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000151835",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000455470",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2784,
                        "APPRIS": "",
                        "uniprot": "H0Y6M8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000151835",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000423156",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1709,
                        "APPRIS": "",
                        "uniprot": "B2REB0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000151835",
                        "CDSid": "CCDS9300",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000382298",
                        "refseq": "NM_014363",
                        "biotype": "protein_coding",
                        "transcriptLength": 15668,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000382292"
            },
            "entity_type": "gene",
            "entity_name": "SACS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spastic ataxia, Charlevoix-Saguenay type"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SEPSECS",
                "omim_gene": "613009",
                "gene_name": "Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000109618",
                        "CDSid": "CCDS3432",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000382103",
                        "refseq": "NM_016955",
                        "biotype": "protein_coding",
                        "transcriptLength": 5496,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000109618",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000358971",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 3344,
                        "APPRIS": "",
                        "uniprot": "J3KP25"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000109618",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000514585",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1494,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000109618",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000503150",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 544,
                        "APPRIS": "",
                        "uniprot": "H0Y9D2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000109618",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000513285",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 561,
                        "APPRIS": "",
                        "uniprot": "D6R969"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "SEPSECS",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia type 2D (613811)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SETX",
                "omim_gene": "608465",
                "gene_name": "senataxin",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000107290",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000436441",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5730,
                        "APPRIS": "alternative2",
                        "uniprot": "X6RI79"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000107290",
                        "CDSid": "CCDS6947",
                        "TSL": "tsl1",
                        "name": "ENST00000224140",
                        "refseq": "NM_015046",
                        "biotype": "protein_coding",
                        "transcriptLength": 11100,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_268",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_268t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000372169"
            },
            "entity_type": "gene",
            "entity_name": "SETX",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia",
                "Ataxia-ocular apraxia-2"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SIL1",
                "omim_gene": "608005",
                "gene_name": "SIL1 nucleotide exchange factor",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000120725",
                        "CDSid": "CCDS4209",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000394817",
                        "refseq": "NM_022464",
                        "biotype": "protein_coding",
                        "transcriptLength": 1923,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000120725",
                        "CDSid": "CCDS4209",
                        "TSL": "tsl5 (assigned to previous version 7)",
                        "name": "ENST00000265195",
                        "refseq": "NM_001037633",
                        "biotype": "protein_coding",
                        "transcriptLength": 1895,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000120725",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000509534",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1714,
                        "APPRIS": "alternative2",
                        "uniprot": "D6REA1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120725",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000505945",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 250,
                        "APPRIS": "alternative2",
                        "uniprot": "A0RZB6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120725",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000508639",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 675,
                        "APPRIS": "",
                        "uniprot": "D6RIU8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120725",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000513453",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 572,
                        "APPRIS": "",
                        "uniprot": "D6RBP7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120725",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000507002",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 581,
                        "APPRIS": "",
                        "uniprot": "D6RAI3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120725",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000505830",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 496,
                        "APPRIS": "",
                        "uniprot": "D6RG16"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000120725",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000505353",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 442,
                        "APPRIS": "",
                        "uniprot": "D6R940"
                    }
                ],
                "primary_transcript": "ENST00000509534"
            },
            "entity_type": "gene",
            "entity_name": "SIL1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SLC1A3",
                "omim_gene": "600111",
                "gene_name": "solute carrier family 1 (glial high affinity glutamate transporter), member 3",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000079215",
                        "CDSid": "CCDS3919",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000265113",
                        "refseq": "NM_004172",
                        "biotype": "protein_coding",
                        "transcriptLength": 4170,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R050"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000079215",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000513903",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 784,
                        "APPRIS": "",
                        "uniprot": "E7EUS7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000079215",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000505202",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 540,
                        "APPRIS": "",
                        "uniprot": "E7EUV6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000079215",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000513646",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 566,
                        "APPRIS": "",
                        "uniprot": "E7EUV6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000079215",
                        "CDSid": "CCDS54844",
                        "TSL": "tsl1",
                        "name": "ENST00000381918",
                        "refseq": "NM_001166695",
                        "biotype": "protein_coding",
                        "transcriptLength": 3652,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000079215",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000612708",
                        "refseq": "NM_001289940",
                        "biotype": "protein_coding",
                        "transcriptLength": 3832,
                        "APPRIS": "",
                        "uniprot": "A0A087X0U3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000079215",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000613445",
                        "refseq": "NM_001289939",
                        "biotype": "protein_coding",
                        "transcriptLength": 4030,
                        "APPRIS": "",
                        "uniprot": "A0A087WT87"
                    }
                ],
                "primary_transcript": "ENST00000265113"
            },
            "entity_type": "gene",
            "entity_name": "SLC1A3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Episodic ataxia, type 6,"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SLC2A1",
                "omim_gene": "138140",
                "gene_name": "solute carrier family 2 (facilitated glucose transporter), member 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000117394",
                        "CDSid": "CCDS477",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000426263",
                        "refseq": "NM_006516",
                        "biotype": "protein_coding",
                        "transcriptLength": 3667,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000117394",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000630287",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2398,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000117394",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 1)",
                        "name": "ENST00000475162",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 598,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000117394",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 1)",
                        "name": "ENST00000439722",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 865,
                        "APPRIS": "",
                        "uniprot": "C9JIM8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000117394",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000372500",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 533,
                        "APPRIS": "",
                        "uniprot": "A6NL68"
                    }
                ],
                "primary_transcript": "ENST00000426263"
            },
            "entity_type": "gene",
            "entity_name": "SLC2A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SLC9A6",
                "omim_gene": "300231",
                "gene_name": "solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000198689",
                        "CDSid": "CCDS55504",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000370701",
                        "refseq": "NM_001177651",
                        "biotype": "protein_coding",
                        "transcriptLength": 4466,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000198689",
                        "CDSid": "CCDS14654",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000370698",
                        "refseq": "NM_006359",
                        "biotype": "protein_coding",
                        "transcriptLength": 4631,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000198689",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000627534",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 648,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000198689",
                        "CDSid": "CCDS44003",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000370695",
                        "refseq": "NM_001042537",
                        "biotype": "protein_coding",
                        "transcriptLength": 4711,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000198689",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000630721",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 619,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000370695"
            },
            "entity_type": "gene",
            "entity_name": "SLC9A6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SNX14",
                "omim_gene": "616105",
                "gene_name": "sorting nexin 14",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000135317",
                        "CDSid": "CCDS5003",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000346348",
                        "refseq": "NM_020468",
                        "biotype": "protein_coding",
                        "transcriptLength": 3348,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000135317",
                        "CDSid": "CCDS5004",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000314673",
                        "refseq": "NM_153816",
                        "biotype": "protein_coding",
                        "transcriptLength": 3486,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000513865",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2259,
                        "APPRIS": "",
                        "uniprot": "D6RDH9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000505648",
                        "refseq": "NM_001304479",
                        "biotype": "protein_coding",
                        "transcriptLength": 3193,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000135317",
                        "CDSid": "CCDS75490",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000369627",
                        "refseq": "NM_001297614",
                        "biotype": "protein_coding",
                        "transcriptLength": 3111,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000508658",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 543,
                        "APPRIS": "",
                        "uniprot": "H0Y926"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000515216",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3288,
                        "APPRIS": "",
                        "uniprot": "D6RJG9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000418862",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 636,
                        "APPRIS": "",
                        "uniprot": "Q5JRQ0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000369635",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2578,
                        "APPRIS": "",
                        "uniprot": "E2QRM8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000509338",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 505,
                        "APPRIS": "",
                        "uniprot": "D6RBA7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000514419",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 863,
                        "APPRIS": "",
                        "uniprot": "D6RDA6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000135317",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000513869",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 530,
                        "APPRIS": "",
                        "uniprot": "D6REK1"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "SNX14",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Autosomal recessive spinocerebellar ataxia (#616354)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SPG7",
                "omim_gene": "602783",
                "gene_name": "spastic paraplegia 7 (pure and complicated autosomal recessive)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000197912",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000566371",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 581,
                        "APPRIS": "",
                        "uniprot": "H3BMP1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000197912",
                        "CDSid": "CCDS10977",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000268704",
                        "refseq": "NM_003119",
                        "biotype": "protein_coding",
                        "transcriptLength": 3076,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000197912",
                        "CDSid": "CCDS10978",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000341316",
                        "refseq": "NM_199367",
                        "biotype": "protein_coding",
                        "transcriptLength": 2288,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000197912",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000568151",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 544,
                        "APPRIS": "",
                        "uniprot": "H3BUN3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000197912",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000567138",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1361,
                        "APPRIS": "",
                        "uniprot": "A0A087X0F5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000197912",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000569820",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2305,
                        "APPRIS": "",
                        "uniprot": "H3BNE4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000197912",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000566221",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 734,
                        "APPRIS": "",
                        "uniprot": "H3BTR8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000197912",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000561911",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1025,
                        "APPRIS": "",
                        "uniprot": "H3BTY6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000197912",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000566682",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 756,
                        "APPRIS": "",
                        "uniprot": "J3KRF6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000197912",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000620811",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3420,
                        "APPRIS": "",
                        "uniprot": "A0A087WTP1"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "SPG7",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 25681447"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Spastic paraplegia 7 (#607259)   complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SPTBN2",
                "omim_gene": "604985",
                "gene_name": "spectrin, beta, non-erythrocytic 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000173898",
                        "CDSid": "CCDS8150",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000533211",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 8128,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000173898",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000529997",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 8085,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000173898",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000527010",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 859,
                        "APPRIS": "",
                        "uniprot": "E9PJZ2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000173898",
                        "CDSid": "CCDS8150",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000309996",
                        "refseq": "NM_006946",
                        "biotype": "protein_coding",
                        "transcriptLength": 7866,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000173898",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000617502",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3498,
                        "APPRIS": "",
                        "uniprot": "A4QPE4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000173898",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 2)",
                        "name": "ENST00000611817",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2890,
                        "APPRIS": "",
                        "uniprot": "A4QPE4"
                    }
                ],
                "primary_transcript": "ENST00000533211"
            },
            "entity_type": "gene",
            "entity_name": "SPTBN2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 5",
                "Spinocerebellar ataxia, autosomal recessive 14",
                "Spinocerebellar Ataxia, Dominant",
                "SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)",
                "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SRD5A3",
                "omim_gene": "611715",
                "gene_name": "steroid 5 alpha-reductase 3",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128039",
                        "CDSid": "CCDS3498",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000264228",
                        "refseq": "NM_024592",
                        "biotype": "protein_coding",
                        "transcriptLength": 4190,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000128039",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000505210",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 768,
                        "APPRIS": "alternative2",
                        "uniprot": "H0Y9P9"
                    }
                ],
                "primary_transcript": "ENST00000264228"
            },
            "entity_type": "gene",
            "entity_name": "SRD5A3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "STUB1",
                "omim_gene": "607207",
                "gene_name": "STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000103266",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000565677",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1560,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000103266",
                        "CDSid": "CCDS10419",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000219548",
                        "refseq": "NM_005861",
                        "biotype": "protein_coding",
                        "transcriptLength": 1472,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000103266",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000567173",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 743,
                        "APPRIS": "",
                        "uniprot": "H3BS86"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000103266",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000564370",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 875,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000103266",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000566408",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 684,
                        "APPRIS": "",
                        "uniprot": "H3BUD0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000103266",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000564316",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 729,
                        "APPRIS": "",
                        "uniprot": "H3BTA3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000103266",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000565813",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 337,
                        "APPRIS": "",
                        "uniprot": "V9GYH3"
                    }
                ],
                "primary_transcript": "ENST00000219548"
            },
            "entity_type": "gene",
            "entity_name": "STUB1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia, autosomal recessive 16"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SYNE1",
                "omim_gene": "608441",
                "gene_name": "spectrin repeat containing, nuclear envelope 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "CCDS5236",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000367255",
                        "refseq": "NM_182961",
                        "biotype": "protein_coding",
                        "transcriptLength": 27748,
                        "APPRIS": "principal4",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000539504",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3768,
                        "APPRIS": "",
                        "uniprot": "Q5JV20"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 6)",
                        "name": "ENST00000367257",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5022,
                        "APPRIS": "",
                        "uniprot": "H0Y326"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "CCDS5235",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000423061",
                        "refseq": "NM_033071",
                        "biotype": "protein_coding",
                        "transcriptLength": 27436,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000367251",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5837,
                        "APPRIS": "",
                        "uniprot": "H0Y325"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000354674",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3154,
                        "APPRIS": "",
                        "uniprot": "F8WAI0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000540663",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 776,
                        "APPRIS": "",
                        "uniprot": "F5H6R8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000537033",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 647,
                        "APPRIS": "",
                        "uniprot": "F5GZ83"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000454018",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1546,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000469439",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 630,
                        "APPRIS": "",
                        "uniprot": "H0YGD3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 6)",
                        "name": "ENST00000367253",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5189,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000367248",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 7165,
                        "APPRIS": "",
                        "uniprot": "F5GXQ8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000413186",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4860,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000495090",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1907,
                        "APPRIS": "",
                        "uniprot": "F5H422"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000474655",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1798,
                        "APPRIS": "",
                        "uniprot": "H0YFT4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000466159",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2610,
                        "APPRIS": "",
                        "uniprot": "F5H4Q0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000537750",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2850,
                        "APPRIS": "",
                        "uniprot": "F5GYQ7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 7)",
                        "name": "ENST00000341594",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 26584,
                        "APPRIS": "",
                        "uniprot": "E7ENN3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000610489",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1754,
                        "APPRIS": "",
                        "uniprot": "A0A087WYJ5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000131018",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000448038",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 6001,
                        "APPRIS": "",
                        "uniprot": "E9PEL9"
                    }
                ],
                "primary_transcript": "ENST00000367255"
            },
            "entity_type": "gene",
            "entity_name": "SYNE1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Cerebellar Ataxia",
                "Spinocerebellar ataxia, autosomal recessive 8"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TGM6",
                "omim_gene": "613900",
                "gene_name": "transglutaminase 6",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000166948",
                        "CDSid": "CCDS13025",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000202625",
                        "refseq": "NM_198994",
                        "biotype": "protein_coding",
                        "transcriptLength": 2292,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000166948",
                        "CDSid": "CCDS58761",
                        "TSL": "tsl1",
                        "name": "ENST00000381423",
                        "refseq": "NM_001254734",
                        "biotype": "protein_coding",
                        "transcriptLength": 2158,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000202625"
            },
            "entity_type": "gene",
            "entity_name": "TGM6",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 35"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TMEM240",
                "omim_gene": "616101",
                "gene_name": "transmembrane protein 240",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000205090",
                        "CDSid": "CCDS44040",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000378733",
                        "refseq": "NM_001114748",
                        "biotype": "protein_coding",
                        "transcriptLength": 718,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000205090",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000624426",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 796,
                        "APPRIS": "",
                        "uniprot": "A0A096LNN7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000205090",
                        "CDSid": "CCDS44040",
                        "TSL": "tsl2",
                        "name": "ENST00000425828",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 717,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "TMEM240",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 21 (#616101)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TPP1",
                "omim_gene": "607998",
                "gene_name": "tripeptidyl peptidase I",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000166340",
                        "CDSid": "CCDS7770",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000299427",
                        "refseq": "NM_000391",
                        "biotype": "protein_coding",
                        "transcriptLength": 3536,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000166340",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000533371",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3536,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000166340",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 4)",
                        "name": "ENST00000436873",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 560,
                        "APPRIS": "",
                        "uniprot": "E7EV34"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000166340",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000528571",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 561,
                        "APPRIS": "",
                        "uniprot": "E9PPA4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000166340",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000528657",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 578,
                        "APPRIS": "",
                        "uniprot": "E9PME9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000166340",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000611494",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2418,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "TPP1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Autosomal recessive spinocerebellar ataxia 7 (#607998)",
                "Neuronal ceroid lipfuscinosis 7 (204500)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TSEN2",
                "omim_gene": "608753",
                "gene_name": "TSEN2 tRNA splicing endonuclease subunit",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000154743",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000446004",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1239,
                        "APPRIS": "",
                        "uniprot": "C9J7Z4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154743",
                        "CDSid": "CCDS46758",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000454502",
                        "refseq": "NM_001145394",
                        "biotype": "protein_coding",
                        "transcriptLength": 1909,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154743",
                        "CDSid": "CCDS2611",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000402228",
                        "refseq": "NM_001145392",
                        "biotype": "protein_coding",
                        "transcriptLength": 2149,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R2H2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154743",
                        "CDSid": "CCDS2611",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000284995",
                        "refseq": "NM_025265",
                        "biotype": "protein_coding",
                        "transcriptLength": 2381,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R2H2"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154743",
                        "CDSid": "CCDS46757",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000415684",
                        "refseq": "NM_001145393",
                        "biotype": "protein_coding",
                        "transcriptLength": 2279,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000154743",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000455118",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 784,
                        "APPRIS": "",
                        "uniprot": "H7C301"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000154743",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000412698",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 553,
                        "APPRIS": "",
                        "uniprot": "H7C2Z3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154743",
                        "CDSid": "CCDS46759",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000444864",
                        "refseq": "NM_001145395",
                        "biotype": "protein_coding",
                        "transcriptLength": 2697,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "TSEN2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 2B (612389)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TSEN54",
                "omim_gene": "608755",
                "gene_name": "TSEN54 tRNA splicing endonuclease subunit",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182173",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000434205",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 627,
                        "APPRIS": "alternative2",
                        "uniprot": "E7EN92"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182173",
                        "CDSid": "CCDS11724",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000333213",
                        "refseq": "NM_207346",
                        "biotype": "protein_coding",
                        "transcriptLength": 1944,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182173",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000583173",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 798,
                        "APPRIS": "alternative2",
                        "uniprot": "J3QLM6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182173",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000583818",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 765,
                        "APPRIS": "alternative2",
                        "uniprot": "J3KRC5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182173",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000578415",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 994,
                        "APPRIS": "alternative2",
                        "uniprot": "J3QRQ5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182173",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000545228",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1139,
                        "APPRIS": "alternative2",
                        "uniprot": "J9JIH8"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "TSEN54",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TTBK2",
                "omim_gene": "611695",
                "gene_name": "tau tubulin kinase 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128881",
                        "CDSid": "CCDS42029",
                        "TSL": "tsl5 (assigned to previous version 8)",
                        "name": "ENST00000267890",
                        "refseq": "NM_173500",
                        "biotype": "protein_coding",
                        "transcriptLength": 10905,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128881",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000567840",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1961,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128881",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000567274",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1777,
                        "APPRIS": "",
                        "uniprot": "A0A0B4J292"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000128881",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000564431",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 743,
                        "APPRIS": "",
                        "uniprot": "H3BQ25"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000128881",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000562880",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 556,
                        "APPRIS": "",
                        "uniprot": "H3BTY5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000128881",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000566931",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 520,
                        "APPRIS": "",
                        "uniprot": "H3BMY7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000128881",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 2)",
                        "name": "ENST00000622375",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 6891,
                        "APPRIS": "",
                        "uniprot": "Q8IWY7"
                    }
                ],
                "primary_transcript": "ENST00000267890"
            },
            "entity_type": "gene",
            "entity_name": "TTBK2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 11"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TTC19",
                "omim_gene": "613814",
                "gene_name": "tetratricopeptide repeat domain 19",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000011295",
                        "CDSid": "CCDS11174",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000261647",
                        "refseq": "NM_001271420",
                        "biotype": "protein_coding",
                        "transcriptLength": 3002,
                        "APPRIS": "principal2",
                        "uniprot": "A0A024RD83"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000011295",
                        "CDSid": "CCDS11174",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000261647",
                        "refseq": "NM_017775",
                        "biotype": "protein_coding",
                        "transcriptLength": 3002,
                        "APPRIS": "principal2",
                        "uniprot": "A0A024RD83"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000011295",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000466729",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 908,
                        "APPRIS": "",
                        "uniprot": "K7ELX2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000011295",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000475723",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2591,
                        "APPRIS": "",
                        "uniprot": "K7EKS0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000011295",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000470399",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 636,
                        "APPRIS": "",
                        "uniprot": "K7EJA1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000011295",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000470649",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 760,
                        "APPRIS": "alternative2",
                        "uniprot": "K7EKH7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000011295",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000578103",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 561,
                        "APPRIS": "",
                        "uniprot": "K7ERR1"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "TTC19",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Nuclear type mitochondrial complex III deficiency (#615157)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TTPA",
                "omim_gene": "600415",
                "gene_name": "tocopherol (alpha) transfer protein",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000137561",
                        "CDSid": "CCDS6178",
                        "TSL": "tsl1",
                        "name": "ENST00000260116",
                        "refseq": "NM_000370",
                        "biotype": "protein_coding",
                        "transcriptLength": 2338,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000260116"
            },
            "entity_type": "gene",
            "entity_name": "TTPA",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Ataxia with Vitamin E Deficiency",
                "Ataxia with isolated vitamin E deficiency"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TUBB4A",
                "omim_gene": "602662",
                "gene_name": "tubulin, beta 4A class IVa",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000104833",
                        "CDSid": "CCDS12168",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000264071",
                        "refseq": "NM_006087",
                        "biotype": "protein_coding",
                        "transcriptLength": 2552,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000104833",
                        "CDSid": "CCDS12168",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000264071",
                        "refseq": "NM_001289131",
                        "biotype": "protein_coding",
                        "transcriptLength": 2552,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000104833",
                        "CDSid": "CCDS12168",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000264071",
                        "refseq": "NM_001289130",
                        "biotype": "protein_coding",
                        "transcriptLength": 2552,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000594276",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 562,
                        "APPRIS": "",
                        "uniprot": "M0R2D3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000594075",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 579,
                        "APPRIS": "",
                        "uniprot": "M0QYM7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000600216",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 530,
                        "APPRIS": "",
                        "uniprot": "M0R042"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000595324",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1050,
                        "APPRIS": "",
                        "uniprot": "M0QY37"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000601152",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 590,
                        "APPRIS": "",
                        "uniprot": "M0R0M1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000598006",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 565,
                        "APPRIS": "",
                        "uniprot": "M0R2T4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000596291",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 545,
                        "APPRIS": "",
                        "uniprot": "M0R1I1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000597686",
                        "refseq": "NM_001289127",
                        "biotype": "protein_coding",
                        "transcriptLength": 636,
                        "APPRIS": "",
                        "uniprot": "M0R278"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000596926",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 548,
                        "APPRIS": "",
                        "uniprot": "M0QX14"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000594290",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 553,
                        "APPRIS": "",
                        "uniprot": "M0R0X0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000601640",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 543,
                        "APPRIS": "",
                        "uniprot": "M0QY85"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000104833",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000598635",
                        "refseq": "NM_001289123",
                        "biotype": "protein_coding",
                        "transcriptLength": 565,
                        "APPRIS": "",
                        "uniprot": "M0QZL7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000104833",
                        "CDSid": "CCDS12168",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000540257",
                        "refseq": "NM_001289129",
                        "biotype": "protein_coding",
                        "transcriptLength": 2224,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "TUBB4A",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments ",
            "publications": [
                "PMID: 25497598"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Implicated autosomal dominant variants in two families with ataxia",
                "Torsion dystonia 4 (128101) - some individuals with ataxia",
                "hypomyelinating leukodystrophy 6 (612438) - ataxia reported."
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "VAMP1",
                "omim_gene": "185880",
                "gene_name": "vesicle-associated membrane protein 1 (synaptobrevin 1)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139190",
                        "CDSid": "CCDS44809",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000400911",
                        "refseq": "NM_016830",
                        "biotype": "protein_coding",
                        "transcriptLength": 1068,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139190",
                        "CDSid": "CCDS31731",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000361716",
                        "refseq": "NM_199245",
                        "biotype": "protein_coding",
                        "transcriptLength": 3449,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139190",
                        "CDSid": "CCDS73422",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000535180",
                        "refseq": "NM_001297438",
                        "biotype": "protein_coding",
                        "transcriptLength": 747,
                        "APPRIS": "",
                        "uniprot": "F5GZV7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139190",
                        "CDSid": "CCDS41740",
                        "TSL": "tsl2",
                        "name": "ENST00000396308",
                        "refseq": "NM_014231",
                        "biotype": "protein_coding",
                        "transcriptLength": 1113,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000396308"
            },
            "entity_type": "gene",
            "entity_name": "VAMP1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spastic Ataxia 1, autosomal dominant"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "VLDLR",
                "omim_gene": "192977",
                "gene_name": "very low density lipoprotein receptor",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000147852",
                        "CDSid": "CCDS6446",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000382100",
                        "refseq": "NM_003383",
                        "biotype": "protein_coding",
                        "transcriptLength": 9163,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000147852",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000382096",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 736,
                        "APPRIS": "",
                        "uniprot": "Q5VVF8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000147852",
                        "CDSid": "CCDS34979",
                        "TSL": "tsl1",
                        "name": "ENST00000382099",
                        "refseq": "NM_001018056",
                        "biotype": "protein_coding",
                        "transcriptLength": 3240,
                        "APPRIS": "alternative1",
                        "uniprot": "Q5VVF5"
                    }
                ],
                "primary_transcript": "ENST00000382100"
            },
            "entity_type": "gene",
            "entity_name": "VLDLR",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "VRK1",
                "omim_gene": "602168",
                "gene_name": "vaccinia related kinase 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000100749",
                        "CDSid": "CCDS9947",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000216639",
                        "refseq": "NM_003384",
                        "biotype": "protein_coding",
                        "transcriptLength": 1745,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100749",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000557222",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1029,
                        "APPRIS": "",
                        "uniprot": "H0YJ50"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100749",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000557352",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 599,
                        "APPRIS": "",
                        "uniprot": "H0YJJ9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000100749",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000553683",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 247,
                        "APPRIS": "",
                        "uniprot": "H0YJF7"
                    }
                ],
                "primary_transcript": "NM_003384.2 "
            },
            "entity_type": "gene",
            "entity_name": "VRK1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert List"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 1A (#607596)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "WDR73",
                "omim_gene": "616144",
                "gene_name": "WD repeat domain 73",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000177082",
                        "CDSid": "CCDS45339",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000434634",
                        "refseq": "NM_032856",
                        "biotype": "protein_coding",
                        "transcriptLength": 5387,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000177082",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000559224",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 788,
                        "APPRIS": "",
                        "uniprot": "H0YMX2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000177082",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000558521",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 997,
                        "APPRIS": "",
                        "uniprot": "H0YMT3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000177082",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000559178",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 933,
                        "APPRIS": "",
                        "uniprot": "H0YLH0"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "WDR73",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "WDR81",
                "omim_gene": "614218",
                "gene_name": "WD repeat domain 81",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000276021",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613616",
                        "refseq": "NM_001163673",
                        "biotype": "protein_coding",
                        "transcriptLength": 3184,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000276021",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000615141",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2968,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000276021",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613381",
                        "refseq": "NM_001163811",
                        "biotype": "protein_coding",
                        "transcriptLength": 3320,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000276021",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000611758",
                        "refseq": "NM_152348",
                        "biotype": "protein_coding",
                        "transcriptLength": 3629,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000276021",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000611758",
                        "refseq": "NM_001163809",
                        "biotype": "protein_coding",
                        "transcriptLength": 3629,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000167716",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000455636",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 570,
                        "APPRIS": "",
                        "uniprot": "C9JCF9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000167716",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000468539",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 562,
                        "APPRIS": "",
                        "uniprot": "I3L3U7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167716",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 7)",
                        "name": "ENST00000309182",
                        "refseq": "NM_152348",
                        "biotype": "protein_coding",
                        "transcriptLength": 3808,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167716",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000446363",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2968,
                        "APPRIS": "alternative2",
                        "uniprot": "E9PDG3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167716",
                        "CDSid": "CCDS54063",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000419248",
                        "refseq": "NM_001163811",
                        "biotype": "protein_coding",
                        "transcriptLength": 3315,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000167716",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000418841",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 582,
                        "APPRIS": "",
                        "uniprot": "C9JD20"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167716",
                        "CDSid": "CCDS54062",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000409644",
                        "refseq": "NM_001163809",
                        "biotype": "protein_coding",
                        "transcriptLength": 6733,
                        "APPRIS": "principal4",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000167716",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000575206",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 590,
                        "APPRIS": "",
                        "uniprot": "I3L1G2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000167716",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000474958",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 561,
                        "APPRIS": "",
                        "uniprot": "K7ELV8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000167716",
                        "CDSid": "CCDS54061",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000437219",
                        "refseq": "NM_001163673",
                        "biotype": "protein_coding",
                        "transcriptLength": 3184,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000409644"
            },
            "entity_type": "gene",
            "entity_name": "WDR81",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "WFS1",
                "omim_gene": "606201",
                "gene_name": "Wolfram syndrome 1 (wolframin)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000109501",
                        "CDSid": "CCDS3386",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000503569",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3255,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000109501",
                        "CDSid": "CCDS3386",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000226760",
                        "refseq": "NM_001145853",
                        "biotype": "protein_coding",
                        "transcriptLength": 3640,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000109501",
                        "CDSid": "CCDS3386",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000226760",
                        "refseq": "NM_006005",
                        "biotype": "protein_coding",
                        "transcriptLength": 3640,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000109501",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000506362",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 755,
                        "APPRIS": "",
                        "uniprot": "H0Y9G5"
                    }
                ],
                "primary_transcript": "ENST00000503569"
            },
            "entity_type": "gene",
            "entity_name": "WFS1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "WWOX",
                "omim_gene": "605131",
                "gene_name": "WW domain containing oxidoreductase",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "CCDS42196",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000566780",
                        "refseq": "NM_016373",
                        "biotype": "protein_coding",
                        "transcriptLength": 2482,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000569332",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1856,
                        "APPRIS": "",
                        "uniprot": "H3BMD1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000402655",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1594,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000406884",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1701,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000539474",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1670,
                        "APPRIS": "",
                        "uniprot": "F5H3R5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000566662",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 571,
                        "APPRIS": "",
                        "uniprot": "H3BMD1"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "tslNA",
                        "name": "ENST00000569818",
                        "refseq": "NM_130844",
                        "biotype": "protein_coding",
                        "transcriptLength": 525,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "CCDS42197",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000355860",
                        "refseq": "NM_130791",
                        "biotype": "protein_coding",
                        "transcriptLength": 710,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000408984",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1227,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000627394",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 894,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186153",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000620008",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 450,
                        "APPRIS": "",
                        "uniprot": "A0A087WZG5"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "WWOX",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert Review"
            ],
            "phenotypes": [
                "Autosomal recessive spinocerebellar ataxia 12 (#614322)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "AARS",
                "omim_gene": "601065",
                "gene_name": "alanyl-tRNA synthetase",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000090861",
                        "CDSid": "CCDS32474",
                        "TSL": "tsl1 (assigned to previous version 10)",
                        "name": "ENST00000261772",
                        "refseq": "NM_001605",
                        "biotype": "protein_coding",
                        "transcriptLength": 3477,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000090861",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000565361",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 839,
                        "APPRIS": "",
                        "uniprot": "H3BPK7"
                    },
                    {
                        "genecode": "",
                        "geneid": "LRG_359",
                        "CDSid": "",
                        "TSL": "",
                        "name": "LRG_359t1",
                        "refseq": "",
                        "biotype": "LRG_gene",
                        "transcriptLength": 0,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000261772"
            },
            "entity_type": "gene",
            "entity_name": "AARS",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ALAS2",
                "omim_gene": "301300",
                "gene_name": "5'-aminolevulinate synthase 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000158578",
                        "CDSid": "CCDS43960",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000396198",
                        "refseq": "NM_001037968",
                        "biotype": "protein_coding",
                        "transcriptLength": 1936,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000158578",
                        "CDSid": "CCDS14366",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000330807",
                        "refseq": "NM_000032",
                        "biotype": "protein_coding",
                        "transcriptLength": 2027,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000158578",
                        "CDSid": "CCDS35303",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000335854",
                        "refseq": "NM_001037967",
                        "biotype": "protein_coding",
                        "transcriptLength": 1795,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000158578",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000455688",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 664,
                        "APPRIS": "",
                        "uniprot": "H0Y6R3"
                    }
                ],
                "primary_transcript": "ENST00000330807"
            },
            "entity_type": "gene",
            "entity_name": "ALAS2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATN1",
                "omim_gene": "607462",
                "gene_name": "atrophin 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000111676",
                        "CDSid": "CCDS31734",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000356654",
                        "refseq": "NM_001007026",
                        "biotype": "protein_coding",
                        "transcriptLength": 4351,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000111676",
                        "CDSid": "CCDS31734",
                        "TSL": "tsl1",
                        "name": "ENST00000396684",
                        "refseq": "NM_001940",
                        "biotype": "protein_coding",
                        "transcriptLength": 4290,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "ATN1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Eligibility statement prior genetic testing"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATP2B3",
                "omim_gene": "300014",
                "gene_name": "ATPase, Ca++ transporting, plasma membrane 3",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000067842",
                        "CDSid": "CCDS35440",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000349466",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4280,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000067842",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000370186",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 6742,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000067842",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000393842",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4064,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000067842",
                        "CDSid": "CCDS14722",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000359149",
                        "refseq": "NM_021949",
                        "biotype": "protein_coding",
                        "transcriptLength": 4234,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000067842",
                        "CDSid": "CCDS35440",
                        "TSL": "tsl1",
                        "name": "ENST00000263519",
                        "refseq": "NM_001001344",
                        "biotype": "protein_coding",
                        "transcriptLength": 6420,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000349466"
            },
            "entity_type": "gene",
            "entity_name": "ATP2B3",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia, X-linked 1"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATP8A2",
                "omim_gene": "605870",
                "gene_name": "ATPase, aminophospholipid transporter, class I, type 8A, member 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000132932",
                        "CDSid": "CCDS41873",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000381655",
                        "refseq": "NM_016529",
                        "biotype": "protein_coding",
                        "transcriptLength": 9575,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000132932",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000281620",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 3891,
                        "APPRIS": "",
                        "uniprot": "F8W9B3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000132932",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000255283",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3287,
                        "APPRIS": "",
                        "uniprot": "F8VRS1"
                    }
                ],
                "primary_transcript": "ENST00000381655"
            },
            "entity_type": "gene",
            "entity_name": "ATP8A2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 22892528"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATXN1",
                "omim_gene": "601556",
                "gene_name": "ataxin 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000124788",
                        "CDSid": "CCDS34342",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000244769",
                        "refseq": "NM_000332",
                        "biotype": "protein_coding",
                        "transcriptLength": 10602,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000124788",
                        "CDSid": "CCDS34342",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000436367",
                        "refseq": "NM_001128164",
                        "biotype": "protein_coding",
                        "transcriptLength": 10587,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000244769"
            },
            "entity_type": "gene",
            "entity_name": "ATXN1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Eligibility statement prior genetic testing",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Spinocerebellarataxia1,164400"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATXN10",
                "omim_gene": "611150",
                "gene_name": "ataxin 10",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000130638",
                        "CDSid": "CCDS14070",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000252934",
                        "refseq": "NM_013236",
                        "biotype": "protein_coding",
                        "transcriptLength": 3329,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000130638",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000435026",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 653,
                        "APPRIS": "",
                        "uniprot": "B1AHE4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000130638",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000402380",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 564,
                        "APPRIS": "",
                        "uniprot": "B1AHE3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000130638",
                        "CDSid": "CCDS54540",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000381061",
                        "refseq": "NM_001167621",
                        "biotype": "protein_coding",
                        "transcriptLength": 3135,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000252934"
            },
            "entity_type": "gene",
            "entity_name": "ATXN10",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellarataxia10,603516"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATXN2",
                "omim_gene": "601517",
                "gene_name": "ataxin 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000389154",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1794,
                        "APPRIS": "alternative2",
                        "uniprot": "F8WB05"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 6)",
                        "name": "ENST00000389153",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3854,
                        "APPRIS": "alternative2",
                        "uniprot": "F8WB06"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000608853",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4376,
                        "APPRIS": "alternative2",
                        "uniprot": "V9GY86"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000204842",
                        "CDSid": "CCDS31902",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000377617",
                        "refseq": "NM_002973",
                        "biotype": "protein_coding",
                        "transcriptLength": 4702,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000483311",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 4159,
                        "APPRIS": "",
                        "uniprot": "H0YH87"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000535949",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3205,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000542287",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3443,
                        "APPRIS": "alternative2",
                        "uniprot": "F8VQP2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000475132",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 610,
                        "APPRIS": "",
                        "uniprot": "S4R3R6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000550844",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3104,
                        "APPRIS": "",
                        "uniprot": "F8VZC1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000551755",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 695,
                        "APPRIS": "",
                        "uniprot": "S4R3J6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000492467",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 887,
                        "APPRIS": "",
                        "uniprot": "F8W0B5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000550236",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 704,
                        "APPRIS": "",
                        "uniprot": "F8VRK6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000548492",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 556,
                        "APPRIS": "",
                        "uniprot": "F8VVY6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000204842",
                        "CDSid": "CCDS31902",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000550104",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4648,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000204842",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000616825",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4575,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000377617"
            },
            "entity_type": "gene",
            "entity_name": "ATXN2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Eligibility statement prior genetic testing",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATXN3",
                "omim_gene": "607047",
                "gene_name": "ataxin 3",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "CCDS9900",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000558190",
                        "refseq": "NM_004993",
                        "biotype": "protein_coding",
                        "transcriptLength": 26812,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000359366",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2584,
                        "APPRIS": "",
                        "uniprot": "D3VVP3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "CCDS53908",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000502250",
                        "refseq": "NM_001164780",
                        "biotype": "protein_coding",
                        "transcriptLength": 1259,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "CCDS45154",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000503767",
                        "refseq": "NM_001127696",
                        "biotype": "protein_coding",
                        "transcriptLength": 1315,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "CCDS32143",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000340660",
                        "refseq": "NM_030660",
                        "biotype": "protein_coding",
                        "transcriptLength": 1205,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000532032",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1191,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000555381",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 803,
                        "APPRIS": "",
                        "uniprot": "G3V328"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000557311",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 562,
                        "APPRIS": "",
                        "uniprot": "G3V2G2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000555816",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 760,
                        "APPRIS": "",
                        "uniprot": "D3VVP3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000554592",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1010,
                        "APPRIS": "",
                        "uniprot": "G3V3R7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556315",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 924,
                        "APPRIS": "",
                        "uniprot": "G3V3A6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556898",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 990,
                        "APPRIS": "",
                        "uniprot": "G3V4F4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000554672",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 759,
                        "APPRIS": "",
                        "uniprot": "G3V3T6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000557030",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 807,
                        "APPRIS": "",
                        "uniprot": "G3V526"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000553488",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1065,
                        "APPRIS": "",
                        "uniprot": "D3VVP3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556958",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 769,
                        "APPRIS": "",
                        "uniprot": "D6R9I5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556374",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1083,
                        "APPRIS": "",
                        "uniprot": "G3V3S5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000553491",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 857,
                        "APPRIS": "",
                        "uniprot": "G3V4U9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556288",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 901,
                        "APPRIS": "",
                        "uniprot": "D3VVP3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556274",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 913,
                        "APPRIS": "",
                        "uniprot": "D3VVP3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000553570",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 757,
                        "APPRIS": "",
                        "uniprot": "G3V3T0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000554994",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 922,
                        "APPRIS": "",
                        "uniprot": "G3V4F5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556671",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 921,
                        "APPRIS": "",
                        "uniprot": "G3V4B1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000554350",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 943,
                        "APPRIS": "",
                        "uniprot": "G3V390"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556220",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 692,
                        "APPRIS": "",
                        "uniprot": "G3V2G1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000556082",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 660,
                        "APPRIS": "",
                        "uniprot": "D3VVP3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000554673",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 981,
                        "APPRIS": "",
                        "uniprot": "G3V5H3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000515746",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 619,
                        "APPRIS": "",
                        "uniprot": "D6R9I5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000506466",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 637,
                        "APPRIS": "",
                        "uniprot": "E9PJN5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000526872",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 597,
                        "APPRIS": "",
                        "uniprot": "S4R399"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "CCDS73680",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000429774",
                        "refseq": "NM_001164779",
                        "biotype": "protein_coding",
                        "transcriptLength": 6713,
                        "APPRIS": "",
                        "uniprot": "C9JQV6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "CCDS73680",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000429774",
                        "refseq": "NM_001164781",
                        "biotype": "protein_coding",
                        "transcriptLength": 6713,
                        "APPRIS": "",
                        "uniprot": "C9JQV6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000620536",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1044,
                        "APPRIS": "",
                        "uniprot": "A0A087X1A8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000545170",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 6950,
                        "APPRIS": "",
                        "uniprot": "F5H211"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000621269",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 936,
                        "APPRIS": "",
                        "uniprot": "A0A087WXY4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000393287",
                        "refseq": "NM_001164779",
                        "biotype": "protein_coding",
                        "transcriptLength": 6770,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MS38"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000393287",
                        "refseq": "NM_001127697",
                        "biotype": "protein_coding",
                        "transcriptLength": 6770,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MS38"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000066427",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000617719",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1074,
                        "APPRIS": "",
                        "uniprot": "D3VVH9"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "ATXN3",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Eligibility statement prior genetic testing"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ATXN7",
                "omim_gene": "607640",
                "gene_name": "ataxin 7",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000163635",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000474513",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 728,
                        "APPRIS": "",
                        "uniprot": "A0A0A6YYU1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000163635",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000474513",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 728,
                        "APPRIS": "",
                        "uniprot": "Q9UPD8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000163635",
                        "CDSid": "CCDS43102",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000295900",
                        "refseq": "NM_000333",
                        "biotype": "protein_coding",
                        "transcriptLength": 7224,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000163635",
                        "CDSid": "CCDS43102",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000487717",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3683,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000163635",
                        "CDSid": "CCDS46861",
                        "TSL": "tsl1",
                        "name": "ENST00000484332",
                        "refseq": "NM_001128149",
                        "biotype": "protein_coding",
                        "transcriptLength": 2741,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000163635",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000522345",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 346,
                        "APPRIS": "",
                        "uniprot": "H0YAT6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000163635",
                        "CDSid": "CCDS54603",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000538065",
                        "refseq": "NM_001177387",
                        "biotype": "protein_coding",
                        "transcriptLength": 6842,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000398590"
            },
            "entity_type": "gene",
            "entity_name": "ATXN7",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Eligibility statement prior genetic testing",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Spinocerebellarataxia7,164500"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CACNB4",
                "omim_gene": "601949",
                "gene_name": "calcium channel, voltage-dependent, beta 4 subunit",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182389",
                        "CDSid": "CCDS46426",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000539935",
                        "refseq": "NM_000726",
                        "biotype": "protein_coding",
                        "transcriptLength": 7974,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182389",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000439467",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2053,
                        "APPRIS": "",
                        "uniprot": "H0Y476"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182389",
                        "CDSid": "CCDS46428",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000534999",
                        "refseq": "NM_001005747",
                        "biotype": "protein_coding",
                        "transcriptLength": 2181,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182389",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000397327",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2283,
                        "APPRIS": "",
                        "uniprot": "E7EN11"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182389",
                        "CDSid": "CCDS46427",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000427385",
                        "refseq": "NM_001005746",
                        "biotype": "protein_coding",
                        "transcriptLength": 1886,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182389",
                        "CDSid": "CCDS54409",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000201943",
                        "refseq": "NM_001145798",
                        "biotype": "protein_coding",
                        "transcriptLength": 1394,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000182389",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000434468",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 583,
                        "APPRIS": "",
                        "uniprot": "C9J224"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000182389",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 8)",
                        "name": "ENST00000360283",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1816,
                        "APPRIS": "",
                        "uniprot": "E7DBM8"
                    }
                ],
                "primary_transcript": "ENST00000539935"
            },
            "entity_type": "gene",
            "entity_name": "CACNB4",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMC1378014"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Episodic ataxia, type 5",
                "Episodic Ataxia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CCDC88C",
                "omim_gene": "611204",
                "gene_name": "coiled-coil domain containing 88C",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000015133",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000556726",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 3617,
                        "APPRIS": "",
                        "uniprot": "H0YJX5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000015133",
                        "CDSid": "CCDS45151",
                        "TSL": "tsl5 (assigned to previous version 8)",
                        "name": "ENST00000389857",
                        "refseq": "NM_001080414",
                        "biotype": "protein_coding",
                        "transcriptLength": 7474,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000015133",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000389856",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1641,
                        "APPRIS": "",
                        "uniprot": "Q0P665"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000015133",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000553403",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1651,
                        "APPRIS": "",
                        "uniprot": "G3V3S0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000015133",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000331194",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3104,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MR69"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "CCDC88C",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments",
            "publications": [
                "PMID: 25062847"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "autosomal dominant spinocerebellar ataxia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "CLP1",
                "omim_gene": "608757",
                "gene_name": "cleavage and polyadenylation factor I subunit 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000172409",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000529773",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 566,
                        "APPRIS": "",
                        "uniprot": "E9PKV5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000172409",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000529430",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1778,
                        "APPRIS": "",
                        "uniprot": "E9PL17"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000172409",
                        "CDSid": "CCDS7964",
                        "TSL": "tsl1",
                        "name": "ENST00000533682",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2435,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000172409",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000533905",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 553,
                        "APPRIS": "",
                        "uniprot": "E9PJM4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000172409",
                        "CDSid": "CCDS7964",
                        "TSL": "tsl1",
                        "name": "ENST00000525602",
                        "refseq": "NM_006831",
                        "biotype": "protein_coding",
                        "transcriptLength": 1392,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000172409",
                        "CDSid": "CCDS44600",
                        "TSL": "tsl2",
                        "name": "ENST00000302731",
                        "refseq": "NM_001142597",
                        "biotype": "protein_coding",
                        "transcriptLength": 1634,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "CLP1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 10 (#615803)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "DYNC1H1",
                "omim_gene": "600112",
                "gene_name": "dynein, cytoplasmic 1, heavy chain 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000197102",
                        "CDSid": "CCDS9966",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000360184",
                        "refseq": "NM_001376",
                        "biotype": "protein_coding",
                        "transcriptLength": 14333,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000197102",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000553423",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 539,
                        "APPRIS": "",
                        "uniprot": "H0YJ21"
                    }
                ],
                "primary_transcript": "ENST00000360184"
            },
            "entity_type": "gene",
            "entity_name": "DYNC1H1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Charcot Marie Tooth, SMA, Intellectual disability"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ELOVL5",
                "omim_gene": "611805",
                "gene_name": "ELOVL fatty acid elongase 5",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000012660",
                        "CDSid": "CCDS4951",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000304434",
                        "refseq": "NM_021814",
                        "biotype": "protein_coding",
                        "transcriptLength": 2827,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024RD35"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000012660",
                        "CDSid": "CCDS56434",
                        "TSL": "tsl1",
                        "name": "ENST00000370913",
                        "refseq": "NM_001242831",
                        "biotype": "protein_coding",
                        "transcriptLength": 580,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000012660",
                        "CDSid": "CCDS56433",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000370918",
                        "refseq": "NM_001242828",
                        "biotype": "protein_coding",
                        "transcriptLength": 3081,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000012660",
                        "CDSid": "CCDS75470",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000542638",
                        "refseq": "NM_001242830",
                        "biotype": "protein_coding",
                        "transcriptLength": 2875,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MTI6"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "ELOVL5",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments ",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia 36 (#615957)"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "KIAA0226",
                "omim_gene": "613516",
                "gene_name": "KIAA0226",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000145016",
                        "CDSid": "CCDS46987",
                        "TSL": "tsl5 (assigned to previous version 7)",
                        "name": "ENST00000273582",
                        "refseq": "NM_001145642",
                        "biotype": "protein_coding",
                        "transcriptLength": 6955,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000145016",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000413360",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3801,
                        "APPRIS": "",
                        "uniprot": "H0Y6E6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000145016",
                        "CDSid": "CCDS43195",
                        "TSL": "tsl2 (assigned to previous version 7)",
                        "name": "ENST00000296343",
                        "refseq": "NM_014687",
                        "biotype": "protein_coding",
                        "transcriptLength": 2919,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000145016",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000415452",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2665,
                        "APPRIS": "",
                        "uniprot": "H7C357"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000145016",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000447048",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 442,
                        "APPRIS": "",
                        "uniprot": "H7C3H3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000145016",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000449205",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1603,
                        "APPRIS": "",
                        "uniprot": "E9PEM3"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000145016",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000474214",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 615,
                        "APPRIS": "",
                        "uniprot": "A0A096LNI3"
                    }
                ],
                "primary_transcript": "ENST00000296343"
            },
            "entity_type": "gene",
            "entity_name": "KIAA0226",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 20826435"
            ],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "MTPAP",
                "omim_gene": "613669",
                "gene_name": "mitochondrial poly(A) polymerase",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000107951",
                        "CDSid": "CCDS7165",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000263063",
                        "refseq": "NM_018109",
                        "biotype": "protein_coding",
                        "transcriptLength": 5601,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000107951",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000417581",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 816,
                        "APPRIS": "",
                        "uniprot": "Q5T852"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000107951",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000421701",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 695,
                        "APPRIS": "",
                        "uniprot": "Q5T851"
                    }
                ],
                "primary_transcript": "ENST00000358107"
            },
            "entity_type": "gene",
            "entity_name": "MTPAP",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia, spastic, 4,"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "NAGLU",
                "omim_gene": "609701",
                "gene_name": "N-acetylglucosaminidase, alpha",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000108784",
                        "CDSid": "CCDS11427",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000225927",
                        "refseq": "NM_000263",
                        "biotype": "protein_coding",
                        "transcriptLength": 2544,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000108784",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000586516",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 510,
                        "APPRIS": "",
                        "uniprot": "K7ENX5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000108784",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000591587",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1493,
                        "APPRIS": "",
                        "uniprot": "K7EQH9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000108784",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000590358",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 634,
                        "APPRIS": "",
                        "uniprot": "K7END1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000108784",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000592454",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 582,
                        "APPRIS": "",
                        "uniprot": "K7ESD7"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "NAGLU",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Other - please provide details in the comments ",
            "publications": [
                "PMID: 25818867"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert review"
            ],
            "phenotypes": [
                "Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "NOP56",
                "omim_gene": "614154",
                "gene_name": "NOP56 ribonucleoprotein",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000101361",
                        "CDSid": "CCDS13030",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000329276",
                        "refseq": "NM_006392",
                        "biotype": "protein_coding",
                        "transcriptLength": 2400,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000101361",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000445139",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 856,
                        "APPRIS": "",
                        "uniprot": "Q5JXT2"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000101361",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000467196",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1320,
                        "APPRIS": "",
                        "uniprot": "H0YDU4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000101361",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000415272",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1628,
                        "APPRIS": "",
                        "uniprot": "H0Y653"
                    }
                ],
                "primary_transcript": "ENST00000329276"
            },
            "entity_type": "gene",
            "entity_name": "NOP56",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellarataxia36,614153"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PAX2",
                "omim_gene": "167409",
                "gene_name": "paired box 2",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000075891",
                        "CDSid": "CCDS41561",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000355243",
                        "refseq": "NM_003989",
                        "biotype": "protein_coding",
                        "transcriptLength": 4057,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000075891",
                        "CDSid": "CCDS41561",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000355243",
                        "refseq": "NM_000278",
                        "biotype": "protein_coding",
                        "transcriptLength": 4057,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000075891",
                        "CDSid": "CCDS7499",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000370296",
                        "refseq": "NM_003988",
                        "biotype": "protein_coding",
                        "transcriptLength": 4140,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000075891",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 5)",
                        "name": "ENST00000361791",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3193,
                        "APPRIS": "alternative1",
                        "uniprot": "A0A0A0MRH7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000075891",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000427256",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 677,
                        "APPRIS": "",
                        "uniprot": "Q5SZP1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000075891",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000554172",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1755,
                        "APPRIS": "",
                        "uniprot": "G3V5S4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000075891",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000428433",
                        "refseq": "NM_003990",
                        "biotype": "protein_coding",
                        "transcriptLength": 4126,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000075891",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000428433",
                        "refseq": "NM_003987",
                        "biotype": "protein_coding",
                        "transcriptLength": 4126,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000370296"
            },
            "entity_type": "gene",
            "entity_name": "PAX2",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia,spastic2,autosomalrecessive(2)"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PCLO",
                "omim_gene": "604918",
                "gene_name": "piccolo presynaptic cytomatrix protein",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186472",
                        "CDSid": "CCDS47630",
                        "TSL": "tsl2 (assigned to previous version 11)",
                        "name": "ENST00000333891",
                        "refseq": "NM_033026",
                        "biotype": "protein_coding",
                        "transcriptLength": 20329,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186472",
                        "CDSid": "CCDS47631",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000423517",
                        "refseq": "NM_014510",
                        "biotype": "protein_coding",
                        "transcriptLength": 17147,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000186472",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000413807",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 748,
                        "APPRIS": "",
                        "uniprot": "H7C261"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000186472",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000456006",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 451,
                        "APPRIS": "",
                        "uniprot": "H7C114"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186472",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000437081",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3786,
                        "APPRIS": "",
                        "uniprot": "E9PE96"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000186472",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000618073",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1614,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "PCLO",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 25832664"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 3   homozygous non-sense variant identified in the affected individuals of a single pedigree."
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PIK3R5",
                "omim_gene": "611317",
                "gene_name": "phosphoinositide-3-kinase, regulatory subunit 5",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141506",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000269300",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 4317,
                        "APPRIS": "",
                        "uniprot": "X6R3K3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141506",
                        "CDSid": "CCDS11147",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000581552",
                        "refseq": "NM_014308",
                        "biotype": "protein_coding",
                        "transcriptLength": 3253,
                        "APPRIS": "principal2",
                        "uniprot": "L7RT34"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141506",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000585260",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 719,
                        "APPRIS": "",
                        "uniprot": "J3KT66"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141506",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000584803",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2653,
                        "APPRIS": "alternative1",
                        "uniprot": "J3KSW1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141506",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000581895",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 628,
                        "APPRIS": "",
                        "uniprot": "J3KRE9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141506",
                        "CDSid": "CCDS73986",
                        "TSL": "tsl1 (assigned to previous version 1)",
                        "name": "ENST00000623421",
                        "refseq": "NM_001251855",
                        "biotype": "protein_coding",
                        "transcriptLength": 4318,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141506",
                        "CDSid": "CCDS73986",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000611902",
                        "refseq": "NM_001251853",
                        "biotype": "protein_coding",
                        "transcriptLength": 4339,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141506",
                        "CDSid": "CCDS73986",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000611902",
                        "refseq": "NM_001251851",
                        "biotype": "protein_coding",
                        "transcriptLength": 4339,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141506",
                        "CDSid": "CCDS11147",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000447110",
                        "refseq": "NM_001142633",
                        "biotype": "protein_coding",
                        "transcriptLength": 4495,
                        "APPRIS": "principal2",
                        "uniprot": "L7RT34"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141506",
                        "CDSid": "CCDS73986",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000616147",
                        "refseq": "NM_001251852",
                        "biotype": "protein_coding",
                        "transcriptLength": 4377,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000447110"
            },
            "entity_type": "gene",
            "entity_name": "PIK3R5",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Ataxia-oculomotor apraxia 3"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PPP2R2B",
                "omim_gene": "604325",
                "gene_name": "protein phosphatase 2, regulatory subunit B, beta",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000394409",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 10704,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "CCDS43380",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000508545",
                        "refseq": "NM_181678",
                        "biotype": "protein_coding",
                        "transcriptLength": 2042,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "CCDS4284",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000394414",
                        "refseq": "NM_181674",
                        "biotype": "protein_coding",
                        "transcriptLength": 2262,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 6)",
                        "name": "ENST00000394411",
                        "refseq": "NM_181675",
                        "biotype": "protein_coding",
                        "transcriptLength": 2071,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "CCDS4283",
                        "TSL": "tsl5 (assigned to previous version 8)",
                        "name": "ENST00000336640",
                        "refseq": "NM_181676",
                        "biotype": "protein_coding",
                        "transcriptLength": 2008,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "CCDS64282",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000504198",
                        "refseq": "NM_181677",
                        "biotype": "protein_coding",
                        "transcriptLength": 2011,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "CCDS64282",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000504198",
                        "refseq": "NM_001271899",
                        "biotype": "protein_coding",
                        "transcriptLength": 2011,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 5)",
                        "name": "ENST00000394413",
                        "refseq": "NM_001271900",
                        "biotype": "protein_coding",
                        "transcriptLength": 1982,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000512639",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1927,
                        "APPRIS": "",
                        "uniprot": "E9PCT7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000512984",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 512,
                        "APPRIS": "",
                        "uniprot": "H0YA16"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000528601",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 609,
                        "APPRIS": "",
                        "uniprot": "E9PCT7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000515880",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 583,
                        "APPRIS": "",
                        "uniprot": "D6RF04"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000512011",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 570,
                        "APPRIS": "",
                        "uniprot": "D6RB57"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000532154",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 567,
                        "APPRIS": "",
                        "uniprot": "E9PCT7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000508267",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 553,
                        "APPRIS": "",
                        "uniprot": "D6RGF9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000156475",
                        "CDSid": "",
                        "TSL": "tsl4",
                        "name": "ENST00000504565",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 572,
                        "APPRIS": "",
                        "uniprot": "E5RFC4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000156475",
                        "CDSid": "CCDS43380",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000453001",
                        "refseq": "NM_001271948",
                        "biotype": "protein_coding",
                        "transcriptLength": 2569,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000394414"
            },
            "entity_type": "gene",
            "entity_name": "PPP2R2B",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Spinocerebellarataxia12,604326"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "PRICKLE1",
                "omim_gene": "608500",
                "gene_name": "prickle homolog 1 (Drosophila)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139174",
                        "CDSid": "CCDS8742",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000345127",
                        "refseq": "NM_153026",
                        "biotype": "protein_coding",
                        "transcriptLength": 5811,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R0W7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139174",
                        "CDSid": "CCDS8742",
                        "TSL": "tsl5 (assigned to previous version 4)",
                        "name": "ENST00000445766",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4080,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R0W7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139174",
                        "CDSid": "CCDS8742",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000548696",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3584,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R0W7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139174",
                        "CDSid": "CCDS8742",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000552240",
                        "refseq": "NM_001144881",
                        "biotype": "protein_coding",
                        "transcriptLength": 3324,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R0W7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000139174",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000552108",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 585,
                        "APPRIS": "",
                        "uniprot": "F8VUG8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000139174",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000551050",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 693,
                        "APPRIS": "",
                        "uniprot": "F8W1J1"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000139174",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000547113",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 456,
                        "APPRIS": "",
                        "uniprot": "F8W1Q8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000139174",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000547113",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 456,
                        "APPRIS": "",
                        "uniprot": "Q687H4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000139174",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000547113",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 456,
                        "APPRIS": "",
                        "uniprot": "Q687H3"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139174",
                        "CDSid": "CCDS8742",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000455697",
                        "refseq": "NM_001144883",
                        "biotype": "protein_coding",
                        "transcriptLength": 4253,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R0W7"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000139174",
                        "CDSid": "CCDS8742",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000455697",
                        "refseq": "NM_001144882",
                        "biotype": "protein_coding",
                        "transcriptLength": 4253,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R0W7"
                    }
                ],
                "primary_transcript": "ENST00000455697"
            },
            "entity_type": "gene",
            "entity_name": "PRICKLE1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Progressive Myoclonus Epilepsy with Ataxia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "RELN",
                "omim_gene": "600514",
                "gene_name": "reelin",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000189056",
                        "CDSid": "CCDS47680",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000428762",
                        "refseq": "NM_005045",
                        "biotype": "protein_coding",
                        "transcriptLength": 11571,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000189056",
                        "CDSid": "CCDS34722",
                        "TSL": "tsl5 (assigned to previous version 7)",
                        "name": "ENST00000343529",
                        "refseq": "NM_173054",
                        "biotype": "protein_coding",
                        "transcriptLength": 11565,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000189056",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000429186",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 891,
                        "APPRIS": "",
                        "uniprot": "H7C2B0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000189056",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000424685",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 11571,
                        "APPRIS": "alternative2",
                        "uniprot": "J3KQ66"
                    }
                ],
                "primary_transcript": "ENST00000428762"
            },
            "entity_type": "gene",
            "entity_name": "RELN",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN"
            ],
            "phenotypes": [],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SCN8A",
                "omim_gene": "600702",
                "gene_name": "sodium channel, voltage gated, type VIII alpha subunit",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000196876",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000546961",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 465,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000196876",
                        "CDSid": "CCDS44891",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000354534",
                        "refseq": "NM_014191",
                        "biotype": "protein_coding",
                        "transcriptLength": 11556,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000196876",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000599343",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5976,
                        "APPRIS": "",
                        "uniprot": "V9GY68"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000196876",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000627620",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5943,
                        "APPRIS": "alternative1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000196876",
                        "CDSid": "CCDS53794",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000355133",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5820,
                        "APPRIS": "",
                        "uniprot": "F8VWM7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000196876",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 1)",
                        "name": "ENST00000551216",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1627,
                        "APPRIS": "",
                        "uniprot": "F8W0Q0"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000196876",
                        "CDSid": "CCDS53794",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000545061",
                        "refseq": "NM_001177984",
                        "biotype": "protein_coding",
                        "transcriptLength": 11433,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000354534"
            },
            "entity_type": "gene",
            "entity_name": "SCN8A",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Cognitive impairment with or without cerebellar ataxia, 614306"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "SYT14",
                "omim_gene": "610949",
                "gene_name": "synaptotagmin XIV",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000143469",
                        "CDSid": "CCDS53470",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000367019",
                        "refseq": "NM_001146262",
                        "biotype": "protein_coding",
                        "transcriptLength": 2997,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000143469",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000629778",
                        "refseq": "NM_001146261",
                        "biotype": "protein_coding",
                        "transcriptLength": 2549,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000143469",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000629778",
                        "refseq": "NM_001146264",
                        "biotype": "protein_coding",
                        "transcriptLength": 2549,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000143469",
                        "CDSid": "CCDS31014",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000472886",
                        "refseq": "NM_153262",
                        "biotype": "protein_coding",
                        "transcriptLength": 2966,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000143469",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000399639",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 11880,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000143469",
                        "CDSid": "CCDS58058",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000367015",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 5094,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000143469",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000534859",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3438,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MTK4"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000143469",
                        "CDSid": "CCDS58058",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000537238",
                        "refseq": "NM_001256006",
                        "biotype": "protein_coding",
                        "transcriptLength": 5208,
                        "APPRIS": "",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000422431"
            },
            "entity_type": "gene",
            "entity_name": "SYT14",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellarataxia,autosomalrecessive11,614229"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TBP",
                "omim_gene": "600075",
                "gene_name": "TATA box binding protein",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000112592",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000421512",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 935,
                        "APPRIS": "",
                        "uniprot": "Q7Z6S5"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000112592",
                        "CDSid": "CCDS5315",
                        "TSL": "tsl1 (assigned to previous version 8)",
                        "name": "ENST00000230354",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1861,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000112592",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000423353",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 703,
                        "APPRIS": "",
                        "uniprot": "Q7Z6S4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000112592",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000446829",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 892,
                        "APPRIS": "",
                        "uniprot": "H0Y6D8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000112592",
                        "CDSid": "CCDS55077",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000540980",
                        "refseq": "NM_001172085",
                        "biotype": "protein_coding",
                        "transcriptLength": 1701,
                        "APPRIS": "alternative2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000112592",
                        "CDSid": "CCDS5315",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000392092",
                        "refseq": "NM_003194",
                        "biotype": "protein_coding",
                        "transcriptLength": 1903,
                        "APPRIS": "principal3",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000112592",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 2)",
                        "name": "ENST00000616883",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1750,
                        "APPRIS": "alternative2",
                        "uniprot": "Q32MN6"
                    }
                ],
                "primary_transcript": "ENST00000392092"
            },
            "entity_type": "gene",
            "entity_name": "TBP",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Eligibility statement prior genetic testing",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600"
            ],
            "mode_of_inheritance": "",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TDP1",
                "omim_gene": "607198",
                "gene_name": "tyrosyl-DNA phosphodiesterase 1",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000554976",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 3040,
                        "APPRIS": "",
                        "uniprot": "G3V4W8"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000393452",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2370,
                        "APPRIS": "",
                        "uniprot": "E7EPD8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000554180",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 910,
                        "APPRIS": "",
                        "uniprot": "G3V2U6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000042088",
                        "CDSid": "CCDS9888",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000393454",
                        "refseq": "NM_001008744",
                        "biotype": "protein_coding",
                        "transcriptLength": 2068,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R6L5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000553617",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 876,
                        "APPRIS": "",
                        "uniprot": "G3V2J6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000042088",
                        "CDSid": "CCDS9888",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000335725",
                        "refseq": "NM_018319",
                        "biotype": "protein_coding",
                        "transcriptLength": 3702,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R6L5"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000556867",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 748,
                        "APPRIS": "",
                        "uniprot": "G3V5B8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000553527",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 910,
                        "APPRIS": "",
                        "uniprot": "G3V3Q0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000553989",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 728,
                        "APPRIS": "",
                        "uniprot": "G3V5F9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000545686",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2488,
                        "APPRIS": "",
                        "uniprot": "Q9BRS7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000555178",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 2200,
                        "APPRIS": "",
                        "uniprot": "G3V5H9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000556498",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 597,
                        "APPRIS": "",
                        "uniprot": "G3V554"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000555880",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1894,
                        "APPRIS": "",
                        "uniprot": "G3V2F4"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000557782",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 318,
                        "APPRIS": "",
                        "uniprot": "H0YJL7"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000042088",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000556063",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1076,
                        "APPRIS": "",
                        "uniprot": "H0YJ44"
                    }
                ],
                "primary_transcript": "ENST00000393454"
            },
            "entity_type": "gene",
            "entity_name": "TDP1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia, autosomal recessive with axonal neuropathy"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "TSEN34",
                "omim_gene": "608754",
                "gene_name": "TSEN34 tRNA splicing endonuclease subunit",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000278605",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000615482",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 956,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278605",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000614483",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1087,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278605",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000611798",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 1346,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278605",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000615000",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 1548,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278605",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000615079",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 1327,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274672",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000622524",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274672",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000622524",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274672",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000614734",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1915,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274672",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000616209",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 2421,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000275165",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000617902",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000275165",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000619273",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1915,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000275165",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000619994",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 2421,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000275165",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000619994",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 2421,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278712",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613888",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278712",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000615811",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1915,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278712",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000614984",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 2421,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278712",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000614984",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 2421,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000273896",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613712",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000273896",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613712",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000273896",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000619263",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1915,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000273896",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000617149",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 2421,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274796",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000611560",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274796",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000611560",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274796",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613653",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1915,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274796",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000622538",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 2421,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274078",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613310",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274078",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613310",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 2297,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274078",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000613337",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1915,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274078",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000615900",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 2421,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000274129",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000622076",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 956,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274129",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000612236",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 1424,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000274129",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000617739",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 856,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274129",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000616063",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 1548,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274129",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000618135",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 1348,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000274129",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000618447",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1912,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278622",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000615975",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 1424,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278622",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000614948",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 1548,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278622",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000612393",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 1348,
                        "APPRIS": "",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000278622",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000617559",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 852,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000278622",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000621740",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 956,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000278622",
                        "CDSid": "",
                        "TSL": "",
                        "name": "ENST00000617543",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1912,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000170892",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000455798",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 956,
                        "APPRIS": "",
                        "uniprot": "B0V3J0"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000170892",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000456872",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 853,
                        "APPRIS": "",
                        "uniprot": "A9C4B9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000170892",
                        "CDSid": "CCDS42609",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000302937",
                        "refseq": "NM_024075",
                        "biotype": "protein_coding",
                        "transcriptLength": 2294,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000170892",
                        "CDSid": "CCDS42609",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000396383",
                        "refseq": "NM_001282332",
                        "biotype": "protein_coding",
                        "transcriptLength": 1548,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000170892",
                        "CDSid": "CCDS42609",
                        "TSL": "tsl1",
                        "name": "ENST00000396388",
                        "refseq": "NM_001077446",
                        "biotype": "protein_coding",
                        "transcriptLength": 1349,
                        "APPRIS": "principal1",
                        "uniprot": "A0A024R4N9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000170892",
                        "CDSid": "CCDS74446",
                        "TSL": "tsl2 (assigned to previous version 4)",
                        "name": "ENST00000429671",
                        "refseq": "NM_001282333",
                        "biotype": "protein_coding",
                        "transcriptLength": 1912,
                        "APPRIS": "",
                        "uniprot": "E7EQB3"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "TSEN34",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 2C (612390)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "UBR4",
                "omim_gene": "609890",
                "gene_name": "ubiquitin protein ligase E3 component n-recognin 4",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000127481",
                        "CDSid": "CCDS189",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000375254",
                        "refseq": "NM_020765",
                        "biotype": "protein_coding",
                        "transcriptLength": 15906,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000127481",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 5)",
                        "name": "ENST00000375225",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1533,
                        "APPRIS": "",
                        "uniprot": "Q5TBN9"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000127481",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000375224",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 3475,
                        "APPRIS": "",
                        "uniprot": "X6R960"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000127481",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000375218",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 4031,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000127481",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000425413",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2954,
                        "APPRIS": "",
                        "uniprot": "X6RE05"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000127481",
                        "CDSid": "",
                        "TSL": "tsl5",
                        "name": "ENST00000417040",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 6175,
                        "APPRIS": "",
                        "uniprot": "A0A0A0MSW0"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "UBR4",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 23982692"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "Episodic ataxia"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "UCHL1",
                "omim_gene": "191342",
                "gene_name": "ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "",
                        "geneid": "ENSG00000154277",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000514924",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 445,
                        "APPRIS": "",
                        "uniprot": "D6RF53"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154277",
                        "CDSid": "CCDS3462",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000503431",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 917,
                        "APPRIS": "principal1",
                        "uniprot": "V9HW74"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154277",
                        "CDSid": "CCDS3462",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000284440",
                        "refseq": "NM_004181",
                        "biotype": "protein_coding",
                        "transcriptLength": 1172,
                        "APPRIS": "principal1",
                        "uniprot": "V9HW74"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000154277",
                        "CDSid": "",
                        "TSL": "tsl5 (assigned to previous version 3)",
                        "name": "ENST00000512419",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1119,
                        "APPRIS": "",
                        "uniprot": "D6RJD9"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000154277",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000505232",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 748,
                        "APPRIS": "",
                        "uniprot": "D6R974"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154277",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000508768",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 827,
                        "APPRIS": "",
                        "uniprot": "D6RE83"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000154277",
                        "CDSid": "",
                        "TSL": "tsl3",
                        "name": "ENST00000512788",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 785,
                        "APPRIS": "",
                        "uniprot": "D6R956"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "UCHL1",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 23359680"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "Early onset ataxia and optic neuropathy"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "VPS53",
                "omim_gene": "615850",
                "gene_name": "vacuolar protein sorting 53 homolog (S. cerevisiae)",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141252",
                        "CDSid": "CCDS45558",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000437048",
                        "refseq": "NM_001128159",
                        "biotype": "protein_coding",
                        "transcriptLength": 13106,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141252",
                        "CDSid": "",
                        "TSL": "tsl4 (assigned to previous version 3)",
                        "name": "ENST00000574029",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 585,
                        "APPRIS": "",
                        "uniprot": "I3L1W6"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141252",
                        "CDSid": "",
                        "TSL": "tsl2 (assigned to previous version 3)",
                        "name": "ENST00000573028",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 3204,
                        "APPRIS": "",
                        "uniprot": "I3L0S6"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141252",
                        "CDSid": "CCDS10995",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000291074",
                        "refseq": "NM_018289",
                        "biotype": "protein_coding",
                        "transcriptLength": 2656,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141252",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000571805",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 2356,
                        "APPRIS": "",
                        "uniprot": ""
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000141252",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 5)",
                        "name": "ENST00000401468",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1269,
                        "APPRIS": "",
                        "uniprot": "E7EVT8"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141252",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 7)",
                        "name": "ENST00000389040",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 1903,
                        "APPRIS": "",
                        "uniprot": "F6VX93"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141252",
                        "CDSid": "",
                        "TSL": "tsl2",
                        "name": "ENST00000570650",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 729,
                        "APPRIS": "",
                        "uniprot": "I3L184"
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000141252",
                        "CDSid": "",
                        "TSL": "tsl3 (assigned to previous version 3)",
                        "name": "ENST00000576019",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 613,
                        "APPRIS": "",
                        "uniprot": "I3L4P9"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "VPS53",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24577744"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "Pontocerebellar hypoplasia 2E (#615851)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ZFYVE26",
                "omim_gene": "612012",
                "gene_name": "zinc finger, FYVE domain containing 26",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000072121",
                        "CDSid": "CCDS9788",
                        "TSL": "tsl1 (assigned to previous version 6)",
                        "name": "ENST00000347230",
                        "refseq": "NM_015346",
                        "biotype": "protein_coding",
                        "transcriptLength": 9675,
                        "APPRIS": "principal2",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000072121",
                        "CDSid": "",
                        "TSL": "tsl1 (assigned to previous version 3)",
                        "name": "ENST00000554557",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 7466,
                        "APPRIS": "",
                        "uniprot": "G3V230"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000072121",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000557306",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 1533,
                        "APPRIS": "",
                        "uniprot": "Q96H43"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000072121",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000555452",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 7309,
                        "APPRIS": "alternative2",
                        "uniprot": "G3V2D8"
                    }
                ],
                "primary_transcript": ""
            },
            "entity_type": "gene",
            "entity_name": "ZFYVE26",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID:25497598",
                "25842392"
            ],
            "evidence": [
                "Expert Review Red",
                "Expert Review"
            ],
            "phenotypes": [
                "Autosomal recessive spastic paraplegia 15 (#270700)   complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia."
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        },
        {
            "gene_data": {
                "gene_symbol": "ZNF592",
                "omim_gene": "613624",
                "gene_name": "zinc finger protein 592",
                "variants": [],
                "other_transcripts": [
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000166716",
                        "CDSid": "CCDS32317",
                        "TSL": "tsl1 (assigned to previous version 4)",
                        "name": "ENST00000560079",
                        "refseq": "NM_014630",
                        "biotype": "protein_coding",
                        "transcriptLength": 8131,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    },
                    {
                        "genecode": "",
                        "geneid": "ENSG00000166716",
                        "CDSid": "",
                        "TSL": "tsl1",
                        "name": "ENST00000559607",
                        "refseq": "",
                        "biotype": "nonsense_mediated_decay",
                        "transcriptLength": 3910,
                        "APPRIS": "",
                        "uniprot": "H0YM74"
                    },
                    {
                        "genecode": "GENCODE basic",
                        "geneid": "ENSG00000166716",
                        "CDSid": "CCDS32317",
                        "TSL": "tsl1",
                        "name": "ENST00000299927",
                        "refseq": "",
                        "biotype": "protein_coding",
                        "transcriptLength": 7863,
                        "APPRIS": "principal1",
                        "uniprot": ""
                    }
                ],
                "primary_transcript": "ENST00000560079"
            },
            "entity_type": "gene",
            "entity_name": "ZNF592",
            "confidence_level": "1",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia, autosomal recessive 5"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 20,
                "hash_id": "559a7d1022c1fc58ad67fc97",
                "name": "Hereditary ataxia",
                "disease_group": "Neurology and neurodevelopmental disorders",
                "disease_sub_group": "Motor Disorders of the CNS",
                "status": "public",
                "version": "1.0",
                "version_created": "2017-11-05T14:59:00.203002Z",
                "relevant_disorders": [],
                "stats": {},
                "types": [
                    {
                        "name": "Rare Disease 100K",
                        "slug": "rare-disease-100k",
                        "description": "Rare Disease 100K"
                    }
                ]
            }
        }
    ],
    "strs": [],
    "regions": []
}