Gene Search List

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    "count": 35518,
    "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=320",
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    "results": [
        {
            "gene_data": {
                "alias": [
                    "P450C17",
                    "CPT7",
                    "S17AH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2593",
                "gene_name": "cytochrome P450 family 17 subfamily A member 1",
                "omim_gene": [
                    "609300"
                ],
                "alias_name": [
                    "Steroid 17-alpha-monooxygenase"
                ],
                "gene_symbol": "CYP17A1",
                "hgnc_symbol": "CYP17A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:104590288-104597290",
                            "ensembl_id": "ENSG00000148795"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:102830531-102837533",
                            "ensembl_id": "ENSG00000148795"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-02-28"
            },
            "entity_type": "gene",
            "entity_name": "CYP17A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "17,20-lyase deficiency, isolated\t, MIM#202110"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "endocrine"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "P450c21B",
                    "CA21H",
                    "CPS1",
                    "CAH1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2600",
                "gene_name": "cytochrome P450 family 21 subfamily A member 2",
                "omim_gene": [
                    "613815"
                ],
                "alias_name": [
                    "Steroid 21-monooxygenase"
                ],
                "gene_symbol": "CYP21A2",
                "hgnc_symbol": "CYP21A2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:32006042-32009447",
                            "ensembl_id": "ENSG00000231852"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:32038265-32041670",
                            "ensembl_id": "ENSG00000231852"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "CYP21A2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "endocrine",
                "technically challenging"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CTX",
                    "CP27"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2605",
                "gene_name": "cytochrome P450 family 27 subfamily A member 1",
                "omim_gene": [
                    "606530"
                ],
                "alias_name": [
                    "cerebrotendinous xanthomatosis"
                ],
                "gene_symbol": "CYP27A1",
                "hgnc_symbol": "CYP27A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:219646472-219680016",
                            "ensembl_id": "ENSG00000135929"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:218781749-218815293",
                            "ensembl_id": "ENSG00000135929"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-22"
            },
            "entity_type": "gene",
            "entity_name": "CYP27A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Cerebrotendinous xanthomatosis, MIM# 213700"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CYP1",
                    "P450c1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2606",
                "gene_name": "cytochrome P450 family 27 subfamily B member 1",
                "omim_gene": [
                    "609506"
                ],
                "alias_name": [
                    "VDDR I",
                    "1alpha(OH)ase",
                    "25-Hydroxyvitamin D3 1alpha-hydroxylase"
                ],
                "gene_symbol": "CYP27B1",
                "hgnc_symbol": "CYP27B1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:58156117-58162769",
                            "ensembl_id": "ENSG00000111012"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:57762334-57768986",
                            "ensembl_id": "ENSG00000111012"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-24"
            },
            "entity_type": "gene",
            "entity_name": "CYP27B1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Vitamin D-dependent rickets, type I MIM#264700"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "endocrine"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ39501"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26820",
                "gene_name": "cytochrome P450 family 4 subfamily F member 22",
                "omim_gene": [
                    "611495"
                ],
                "alias_name": null,
                "gene_symbol": "CYP4F22",
                "hgnc_symbol": "CYP4F22",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:15619304-15663128",
                            "ensembl_id": "ENSG00000171954"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:15508493-15552317",
                            "ensembl_id": "ENSG00000171954"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-05-18"
            },
            "entity_type": "gene",
            "entity_name": "CYP4F22",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ichthyosis, congenital, autosomal recessive 5, MIM# 604777"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC25181",
                    "D2HGD",
                    "FLJ42195"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28358",
                "gene_name": "D-2-hydroxyglutarate dehydrogenase",
                "omim_gene": [
                    "609186"
                ],
                "alias_name": null,
                "gene_symbol": "D2HGDH",
                "hgnc_symbol": "D2HGDH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:242673994-242708231",
                            "ensembl_id": "ENSG00000180902"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:241734579-241768816",
                            "ensembl_id": "ENSG00000180902"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-03-09"
            },
            "entity_type": "gene",
            "entity_name": "D2HGDH",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "D-2-hydroxyglutaric aciduria MIM#600721"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2698",
                "gene_name": "dihydrolipoamide branched chain transacylase E2",
                "omim_gene": [
                    "248610"
                ],
                "alias_name": [
                    "dihydrolipoyllysine-residue (2-methylpropanoyl)transferase",
                    "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial"
                ],
                "gene_symbol": "DBT",
                "hgnc_symbol": "DBT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:100652475-100715390",
                            "ensembl_id": "ENSG00000137992"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:100186919-100249834",
                            "ensembl_id": "ENSG00000137992"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "DBT",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Maple syrup urine disease, MIM#248600"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ARTEMIS",
                    "FLJ11360",
                    "SNM1C",
                    "A-SCID"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17642",
                "gene_name": "DNA cross-link repair 1C",
                "omim_gene": [
                    "605988"
                ],
                "alias_name": [
                    "PSO2 homolog (S. cerevisiae)"
                ],
                "gene_symbol": "DCLRE1C",
                "hgnc_symbol": "DCLRE1C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:14939358-14996431",
                            "ensembl_id": "ENSG00000152457"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:14897359-14954432",
                            "ensembl_id": "ENSG00000152457"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-01-18"
            },
            "entity_type": "gene",
            "entity_name": "DCLRE1C",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Severe combined immunodeficiency, Athabascan type MIM# 602450",
                "Omenn syndrome, MIM# 603554"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "immunological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SCLH",
                    "DC",
                    "LISX",
                    "DBCN",
                    "XLIS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2714",
                "gene_name": "doublecortin",
                "omim_gene": [
                    "300121"
                ],
                "alias_name": [
                    "doublecortex"
                ],
                "gene_symbol": "DCX",
                "hgnc_symbol": "DCX",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:110537007-110655603",
                            "ensembl_id": "ENSG00000077279"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:111293779-111412429",
                            "ensembl_id": "ENSG00000077279"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-24"
            },
            "entity_type": "gene",
            "entity_name": "DCX",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Lissencephaly, X-linked, MIM# 300067",
                "Subcortical laminal heterotopia, X-linked 300067"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DDBB",
                    "UV-DDB2",
                    "FLJ34321",
                    "XPE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2718",
                "gene_name": "damage specific DNA binding protein 2",
                "omim_gene": [
                    "600811"
                ],
                "alias_name": [
                    "xeroderma pigmentosum group E protein",
                    "UV-damaged DNA-binding protein 2",
                    "DDB p48 subunit"
                ],
                "gene_symbol": "DDB2",
                "hgnc_symbol": "DDB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:47236493-47260767",
                            "ensembl_id": "ENSG00000134574"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:47214465-47239240",
                            "ensembl_id": "ENSG00000134574"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-07-06"
            },
            "entity_type": "gene",
            "entity_name": "DDB2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32530099",
                "32228487"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "AADC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2719",
                "gene_name": "dopa decarboxylase",
                "omim_gene": [
                    "107930"
                ],
                "alias_name": [
                    "aromatic L-amino acid decarboxylase"
                ],
                "gene_symbol": "DDC",
                "hgnc_symbol": "DDC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:50526134-50633154",
                            "ensembl_id": "ENSG00000132437"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:50458436-50565457",
                            "ensembl_id": "ENSG00000132437"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-06-03"
            },
            "entity_type": "gene",
            "entity_name": "DDC",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Aromatic L-amino acid decarboxylase deficiency, MIM#608643"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "clinical trial",
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ICERE-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2810",
                "gene_name": "gasdermin E",
                "omim_gene": [
                    "608798"
                ],
                "alias_name": [
                    "inversely correlated with estrogen receptor expression"
                ],
                "gene_symbol": "DFNA5",
                "hgnc_symbol": "GSDME",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:24737972-24809244",
                            "ensembl_id": "ENSG00000105928"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:24698353-24758113",
                            "ensembl_id": "ENSG00000105928"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-08-18"
            },
            "entity_type": "gene",
            "entity_name": "DFNA5",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Deafness, autosomal dominant 5, MIM# 600994"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "new gene name"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29502",
                "gene_name": "pejvakin",
                "omim_gene": [
                    "610219"
                ],
                "alias_name": null,
                "gene_symbol": "DFNB59",
                "hgnc_symbol": "PJVK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:179316163-179326117",
                            "ensembl_id": "ENSG00000204311"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:178451436-178461390",
                            "ensembl_id": "ENSG00000204311"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-06-30"
            },
            "entity_type": "gene",
            "entity_name": "DFNB59",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Deafness, autosomal recessive 59, MIM# 610220"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new gene name",
                "deafness"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ARGP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2843",
                "gene_name": "diacylglycerol O-acyltransferase 1",
                "omim_gene": [
                    "604900"
                ],
                "alias_name": null,
                "gene_symbol": "DGAT1",
                "hgnc_symbol": "DGAT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:145539954-145550573",
                            "ensembl_id": "ENSG00000185000"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:144314584-144326910",
                            "ensembl_id": "ENSG00000185000"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-11-09"
            },
            "entity_type": "gene",
            "entity_name": "DGAT1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diarrhea 7, protein-losing enteropathy type , MIM#\t615863"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "gastrointestinal"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "dGK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2858",
                "gene_name": "deoxyguanosine kinase",
                "omim_gene": [
                    "601465"
                ],
                "alias_name": null,
                "gene_symbol": "DGUOK",
                "hgnc_symbol": "DGUOK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:74153953-74186088",
                            "ensembl_id": "ENSG00000114956"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:73926826-73958961",
                            "ensembl_id": "ENSG00000114956"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-07-17"
            },
            "entity_type": "gene",
            "entity_name": "DGUOK",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2860",
                "gene_name": "7-dehydrocholesterol reductase",
                "omim_gene": [
                    "602858"
                ],
                "alias_name": null,
                "gene_symbol": "DHCR7",
                "hgnc_symbol": "DHCR7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:71139239-71163914",
                            "ensembl_id": "ENSG00000172893"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:71428193-71452868",
                            "ensembl_id": "ENSG00000172893"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
            },
            "entity_type": "gene",
            "entity_name": "DHCR7",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Smith-Lemli-Opitz syndrome, MIM#270400"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "hDIA1",
                    "LFHL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2876",
                "gene_name": "diaphanous related formin 1",
                "omim_gene": [
                    "602121"
                ],
                "alias_name": null,
                "gene_symbol": "DIAPH1",
                "hgnc_symbol": "DIAPH1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:140894583-140998622",
                            "ensembl_id": "ENSG00000131504"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:141515016-141619055",
                            "ensembl_id": "ENSG00000131504"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-17"
            },
            "entity_type": "gene",
            "entity_name": "DIAPH1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Seizures, cortical blindness, microcephaly syndrome, MIM# 616632",
                "Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "XAP101",
                    "dyskerin",
                    "NAP57",
                    "NOLA4",
                    "Cbf5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2890",
                "gene_name": "dyskerin pseudouridine synthase 1",
                "omim_gene": [
                    "300126"
                ],
                "alias_name": [
                    "H/ACA ribonucleoprotein complex subunit 4"
                ],
                "gene_symbol": "DKC1",
                "hgnc_symbol": "DKC1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153991031-154005964",
                            "ensembl_id": "ENSG00000130826"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154762742-154777689",
                            "ensembl_id": "ENSG00000130826"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "DKC1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category B gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Dyskeratosis congenita, X-linked, MIM#\t305000"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DLDH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2898",
                "gene_name": "dihydrolipoamide dehydrogenase",
                "omim_gene": [
                    "238331"
                ],
                "alias_name": [
                    "E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"
                ],
                "gene_symbol": "DLD",
                "hgnc_symbol": "DLD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:107531415-107572175",
                            "ensembl_id": "ENSG00000091140"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:107890970-107931730",
                            "ensembl_id": "ENSG00000091140"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "entity_type": "gene",
            "entity_name": "DLD",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Maple syrup urine disease, type III, MIM#246900"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SCDO1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2909",
                "gene_name": "delta like canonical Notch ligand 3",
                "omim_gene": [
                    "602768"
                ],
                "alias_name": null,
                "gene_symbol": "DLL3",
                "hgnc_symbol": "DLL3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:39989535-39999121",
                            "ensembl_id": "ENSG00000090932"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:39498895-39508481",
                            "ensembl_id": "ENSG00000090932"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-03-15"
            },
            "entity_type": "gene",
            "entity_name": "DLL3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BMD",
                    "DXS142",
                    "DXS164",
                    "DXS206",
                    "DXS230",
                    "DXS239",
                    "DXS268",
                    "DXS269",
                    "DXS270",
                    "DXS272"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2928",
                "gene_name": "dystrophin",
                "omim_gene": [
                    "300377"
                ],
                "alias_name": [
                    "muscular dystrophy, Duchenne and Becker types"
                ],
                "gene_symbol": "DMD",
                "hgnc_symbol": "DMD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:31115794-33357558",
                            "ensembl_id": "ENSG00000198947"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:31097677-33339441",
                            "ensembl_id": "ENSG00000198947"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "DMD",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "36278620",
                "36152336",
                "35562557",
                "35307847"
            ],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene",
                "BabySeq Category B gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Duchenne muscular dystrophy MIM#310200"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "neurological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2932",
                "gene_name": "dentin matrix acidic phosphoprotein 1",
                "omim_gene": [
                    "600980"
                ],
                "alias_name": null,
                "gene_symbol": "DMP1",
                "hgnc_symbol": "DMP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:88571459-88585513",
                            "ensembl_id": "ENSG00000152592"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:87650307-87664361",
                            "ensembl_id": "ENSG00000152592"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-08-10"
            },
            "entity_type": "gene",
            "entity_name": "DMP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hypophosphatemic rickets MIM#241520"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "skeletal"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DMK",
                    "DM1PK",
                    "MDPK",
                    "MT-PK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2933",
                "gene_name": "DM1 protein kinase",
                "omim_gene": [
                    "605377"
                ],
                "alias_name": [
                    "dystrophia myotonica 1",
                    "DM protein kinase",
                    "myotonin protein kinase A",
                    "myotonic dystrophy associated protein kinase",
                    "thymopoietin homolog"
                ],
                "gene_symbol": "DMPK",
                "hgnc_symbol": "DMPK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:46272975-46285810",
                            "ensembl_id": "ENSG00000104936"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45769717-45782552",
                            "ensembl_id": "ENSG00000104936"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-10"
            },
            "entity_type": "gene",
            "entity_name": "DMPK",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Myotonic dystrophy 1, MIM# 160900"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RC3",
                    "KIAA0856",
                    "DFNA71"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2938",
                "gene_name": "Dmx like 2",
                "omim_gene": [
                    "612186"
                ],
                "alias_name": [
                    "rabconnectin 3"
                ],
                "gene_symbol": "DMXL2",
                "hgnc_symbol": "DMXL2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:51739908-51915030",
                            "ensembl_id": "ENSG00000104093"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:51447711-51622833",
                            "ensembl_id": "ENSG00000104093"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-27"
            },
            "entity_type": "gene",
            "entity_name": "DMXL2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "Developmental and epileptic encephalopathy 81, MIM#618663"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ25330",
                    "ODA7",
                    "CILD13",
                    "swt"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30539",
                "gene_name": "dynein axonemal assembly factor 1",
                "omim_gene": [
                    "613190"
                ],
                "alias_name": [
                    "outer row dynein assembly 7 homolog (Chlamydomonas)"
                ],
                "gene_symbol": "DNAAF1",
                "hgnc_symbol": "DNAAF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:84178865-84212373",
                            "ensembl_id": "ENSG00000154099"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:84145287-84178767",
                            "ensembl_id": "ENSG00000154099"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-06-09"
            },
            "entity_type": "gene",
            "entity_name": "DNAAF1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ciliary dyskinesia, primary, 13, MIM# 613193"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Dnahc11",
                    "DPL11",
                    "CILD7",
                    "DNAHC11",
                    "DNAHBL",
                    "DNHBL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2942",
                "gene_name": "dynein axonemal heavy chain 11",
                "omim_gene": [
                    "603339"
                ],
                "alias_name": [
                    "dynein, ciliary, heavy chain 11",
                    "dynein, heavy chain beta-like"
                ],
                "gene_symbol": "DNAH11",
                "hgnc_symbol": "DNAH11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:21582833-21941457",
                            "ensembl_id": "ENSG00000105877"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:21543215-21901839",
                            "ensembl_id": "ENSG00000105877"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-15"
            },
            "entity_type": "gene",
            "entity_name": "DNAH11",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Dnahc5",
                    "HL1",
                    "PCD",
                    "CILD3",
                    "KTGNR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2950",
                "gene_name": "dynein axonemal heavy chain 5",
                "omim_gene": [
                    "603335"
                ],
                "alias_name": [
                    "dynein heavy chain 5"
                ],
                "gene_symbol": "DNAH5",
                "hgnc_symbol": "DNAH5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:13690440-13944652",
                            "ensembl_id": "ENSG00000039139"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:13690331-13944543",
                            "ensembl_id": "ENSG00000039139"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-11-15"
            },
            "entity_type": "gene",
            "entity_name": "DNAH5",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DIC1",
                    "PCD",
                    "CILD1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2954",
                "gene_name": "dynein axonemal intermediate chain 1",
                "omim_gene": [
                    "604366"
                ],
                "alias_name": null,
                "gene_symbol": "DNAI1",
                "hgnc_symbol": "DNAI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:34457412-34520982",
                            "ensembl_id": "ENSG00000122735"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:34457414-34520989",
                            "ensembl_id": "ENSG00000122735"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-06-16"
            },
            "entity_type": "gene",
            "entity_name": "DNAI1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MRJ"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14888",
                "gene_name": "DnaJ heat shock protein family (Hsp40) member B6",
                "omim_gene": [
                    "611332"
                ],
                "alias_name": null,
                "gene_symbol": "DNAJB6",
                "hgnc_symbol": "DNAJB6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:157128075-157210133",
                            "ensembl_id": "ENSG00000105993"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:157335381-157417439",
                            "ensembl_id": "ENSG00000105993"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-03-09"
            },
            "entity_type": "gene",
            "entity_name": "DNAJB6",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DYNII",
                    "DYN2",
                    "CMTDIB",
                    "CMTDI1",
                    "DI-CMTB",
                    "CMT2M"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2974",
                "gene_name": "dynamin 2",
                "omim_gene": [
                    "602378"
                ],
                "alias_name": [
                    "dynamin II",
                    "cytoskeletal protein"
                ],
                "gene_symbol": "DNM2",
                "hgnc_symbol": "DNM2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:10828755-10944164",
                            "ensembl_id": "ENSG00000079805"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:10718079-10833488",
                            "ensembl_id": "ENSG00000079805"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-10-11"
            },
            "entity_type": "gene",
            "entity_name": "DNM2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2979",
                "gene_name": "DNA methyltransferase 3 beta",
                "omim_gene": [
                    "602900"
                ],
                "alias_name": null,
                "gene_symbol": "DNMT3B",
                "hgnc_symbol": "DNMT3B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:31350191-31397162",
                            "ensembl_id": "ENSG00000088305"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:32762385-32809356",
                            "ensembl_id": "ENSG00000088305"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-15"
            },
            "entity_type": "gene",
            "entity_name": "DNMT3B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "immunological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ00026",
                    "FLJ00152",
                    "ZIR8",
                    "FLJ00346"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19191",
                "gene_name": "dedicator of cytokinesis 8",
                "omim_gene": [
                    "611432"
                ],
                "alias_name": null,
                "gene_symbol": "DOCK8",
                "hgnc_symbol": "DOCK8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:214854-465259",
                            "ensembl_id": "ENSG00000107099"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:214854-465259",
                            "ensembl_id": "ENSG00000107099"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-12-02"
            },
            "entity_type": "gene",
            "entity_name": "DOCK8",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BegniNGS",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hyper-IgE syndrome, MIM#243700"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "immunological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ33718",
                    "FLJ39137",
                    "Dok-7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26594",
                "gene_name": "docking protein 7",
                "omim_gene": [
                    "610285"
                ],
                "alias_name": null,
                "gene_symbol": "DOK7",
                "hgnc_symbol": "DOK7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:3465033-3503200",
                            "ensembl_id": "ENSG00000175920"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:3463311-3494483",
                            "ensembl_id": "ENSG00000175920"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-24"
            },
            "entity_type": "gene",
            "entity_name": "DOK7",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Congenital myasthenic syndrome, MIM# 254300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "neurological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1094",
                    "DK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23406",
                "gene_name": "dolichol kinase",
                "omim_gene": [
                    "610746"
                ],
                "alias_name": [
                    "dolichol kinase 1"
                ],
                "gene_symbol": "DOLK",
                "hgnc_symbol": "DOLK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:131707809-131709898",
                            "ensembl_id": "ENSG00000175283"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:128945530-128947619",
                            "ensembl_id": "ENSG00000175283"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-09"
            },
            "entity_type": "gene",
            "entity_name": "DOLK",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30653653",
                "22242004",
                "23890587",
                "17273964",
                "28816422",
                "24144945"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type Im, MIM# 610768",
                "DK1-CDG, MONDO:0012556"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GPT",
                    "D11S366",
                    "DGPT",
                    "ALG7",
                    "CDG-Ij"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2995",
                "gene_name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
                "omim_gene": [
                    "191350"
                ],
                "alias_name": [
                    "GlcNAc-1-P transferase 1",
                    "UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1"
                ],
                "gene_symbol": "DPAGT1",
                "hgnc_symbol": "DPAGT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:118967213-118979041",
                            "ensembl_id": "ENSG00000172269"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:119096503-119108331",
                            "ensembl_id": "ENSG00000172269"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-13"
            },
            "entity_type": "gene",
            "entity_name": "DPAGT1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Congenital disorder of glycosylation, type Ij, MIM# 608093",
                "DPAGT1-CDG MONDO:0011964",
                "Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "neurological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KPPS2",
                    "PPKS2",
                    "DPI",
                    "DPII"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3052",
                "gene_name": "desmoplakin",
                "omim_gene": [
                    "125647"
                ],
                "alias_name": null,
                "gene_symbol": "DSP",
                "hgnc_symbol": "DSP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:7541808-7586950",
                            "ensembl_id": "ENSG00000096696"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:7541575-7586717",
                            "ensembl_id": "ENSG00000096696"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-03-04"
            },
            "entity_type": "gene",
            "entity_name": "DSP",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene",
                "BabySeq Category B gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Arrhythmogenic right ventricular dysplasia 8, MIM# 607450"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "cardiac",
                "treatable"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "P138-TOX",
                    "P138(TOX)",
                    "THOX2",
                    "LNOX2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13273",
                "gene_name": "dual oxidase 2",
                "omim_gene": [
                    "606759"
                ],
                "alias_name": [
                    "dual oxidase-like domains 2",
                    "nicotinamide adenine dinucleotide phosphate oxidase",
                    "flavoprotein NADPH oxidase",
                    "NADPH thyroid oxidase 2",
                    "NADH/NADPH thyroid oxidase p138-tox",
                    "NADPH oxidase/peroxidase DUOX2"
                ],
                "gene_symbol": "DUOX2",
                "hgnc_symbol": "DUOX2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:45384848-45406542",
                            "ensembl_id": "ENSG00000140279"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:45092650-45114344",
                            "ensembl_id": "ENSG00000140279"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-11-09"
            },
            "entity_type": "gene",
            "entity_name": "DUOX2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Thyroid dyshormonogenesis 6, MIM# 607200"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "endocrine"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:32698",
                "gene_name": "dual oxidase maturation factor 2",
                "omim_gene": [
                    "612772"
                ],
                "alias_name": null,
                "gene_symbol": "DUOXA2",
                "hgnc_symbol": "DUOXA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:45406519-45410619",
                            "ensembl_id": "ENSG00000140274"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:45114321-45118421",
                            "ensembl_id": "ENSG00000140274"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-07-25"
            },
            "entity_type": "gene",
            "entity_name": "DUOXA2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Thyroid dyshormonogenesis 5, MIM# 274900"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "endocrine"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FER1L1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3097",
                "gene_name": "dysferlin",
                "omim_gene": [
                    "603009"
                ],
                "alias_name": [
                    "fer-1-like family member 1"
                ],
                "gene_symbol": "DYSF",
                "hgnc_symbol": "DYSF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:71680852-71913898",
                            "ensembl_id": "ENSG00000135636"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:71453722-71686768",
                            "ensembl_id": "ENSG00000135636"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-03-24"
            },
            "entity_type": "gene",
            "entity_name": "DYSF",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Miyoshi muscular dystrophy 1 254130",
                "Muscular dystrophy, limb-girdle, autosomal recessive 2 253601",
                "Myopathy, distal, with anterior tibial onset 606768"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EDA1",
                    "XLHED",
                    "HED",
                    "XHED",
                    "ED1-A1",
                    "ED1-A2",
                    "EDA-A1",
                    "EDA-A2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3157",
                "gene_name": "ectodysplasin A",
                "omim_gene": [
                    "300451"
                ],
                "alias_name": null,
                "gene_symbol": "EDA",
                "hgnc_symbol": "EDA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:68835911-69259319",
                            "ensembl_id": "ENSG00000158813"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:69616067-70039469",
                            "ensembl_id": "ENSG00000158813"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-08-12"
            },
            "entity_type": "gene",
            "entity_name": "EDA",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100",
                "Tooth agenesis, selective, X-linked 1 MIM#313500"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ED5",
                    "EDA3",
                    "Edar",
                    "ED1R",
                    "EDA1R"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2895",
                "gene_name": "ectodysplasin A receptor",
                "omim_gene": [
                    "604095"
                ],
                "alias_name": null,
                "gene_symbol": "EDAR",
                "hgnc_symbol": "EDAR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:109510927-109605828",
                            "ensembl_id": "ENSG00000135960"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:108894471-108989372",
                            "ensembl_id": "ENSG00000135960"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-08-09"
            },
            "entity_type": "gene",
            "entity_name": "EDAR",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884",
                "autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14341",
                "gene_name": "EDAR associated death domain",
                "omim_gene": [
                    "606603"
                ],
                "alias_name": null,
                "gene_symbol": "EDARADD",
                "hgnc_symbol": "EDARADD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:236511562-236648214",
                            "ensembl_id": "ENSG00000186197"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:236348257-236484914",
                            "ensembl_id": "ENSG00000186197"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-02-08"
            },
            "entity_type": "gene",
            "entity_name": "EDARADD",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884",
                "autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ET3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3178",
                "gene_name": "endothelin 3",
                "omim_gene": [
                    "131242"
                ],
                "alias_name": null,
                "gene_symbol": "EDN3",
                "hgnc_symbol": "EDN3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:57875482-57901047",
                            "ensembl_id": "ENSG00000124205"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:59300427-59325992",
                            "ensembl_id": "ENSG00000124205"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-09-06"
            },
            "entity_type": "gene",
            "entity_name": "EDN3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Waardenburg syndrome, type 4B, MIM# 613265"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "deafness"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ETB"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3180",
                "gene_name": "endothelin receptor type B",
                "omim_gene": [
                    "131244"
                ],
                "alias_name": null,
                "gene_symbol": "EDNRB",
                "hgnc_symbol": "EDNRB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:78469616-78493903",
                            "ensembl_id": "ENSG00000136160"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:77895481-77919768",
                            "ensembl_id": "ENSG00000136160"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-13"
            },
            "entity_type": "gene",
            "entity_name": "EDNRB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Waardenburg syndrome, type 4A, MIM# 277580"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "deafness"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ13119",
                    "FAM42A",
                    "HsT19294",
                    "RIA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25789",
                "gene_name": "elongation factor like GTPase 1",
                "omim_gene": [
                    "617538"
                ],
                "alias_name": [
                    "ribosome assembly 1 homolog (yeast)"
                ],
                "gene_symbol": "EFL1",
                "hgnc_symbol": "EFL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:82422571-82555104",
                            "ensembl_id": "ENSG00000140598"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:82130230-82262763",
                            "ensembl_id": "ENSG00000140598"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-01-05"
            },
            "entity_type": "gene",
            "entity_name": "EFL1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Shwachman-Diamond syndrome 2, MIM#\t617941"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gastrointestinal"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "U5-116KD",
                    "Snrp116",
                    "Snu114",
                    "SNRNP116"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30858",
                "gene_name": "elongation factor Tu GTP binding domain containing 2",
                "omim_gene": [
                    "603892"
                ],
                "alias_name": [
                    "U5 snRNP specific protein, 116 kD"
                ],
                "gene_symbol": "EFTUD2",
                "hgnc_symbol": "EFTUD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:42927311-42977030",
                            "ensembl_id": "ENSG00000108883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:44849943-44899662",
                            "ensembl_id": "ENSG00000108883"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-07-26"
            },
            "entity_type": "gene",
            "entity_name": "EFTUD2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3239",
                "gene_name": "early growth response 2",
                "omim_gene": [
                    "129010"
                ],
                "alias_name": [
                    "Krox-20 homolog, Drosophila"
                ],
                "gene_symbol": "EGR2",
                "hgnc_symbol": "EGR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:64571756-64679660",
                            "ensembl_id": "ENSG00000122877"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:62811996-62919900",
                            "ensembl_id": "ENSG00000122877"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-08-31"
            },
            "entity_type": "gene",
            "entity_name": "EGR2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Charcot-Marie-Tooth disease, type 1D 607678",
                "Dejerine-Sottas disease 145900",
                "Hypomyelinating neuropathy, congenital, 1, MIM# 605253"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PEK",
                    "PERK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3255",
                "gene_name": "eukaryotic translation initiation factor 2 alpha kinase 3",
                "omim_gene": [
                    "604032"
                ],
                "alias_name": null,
                "gene_symbol": "EIF2AK3",
                "hgnc_symbol": "EIF2AK3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:88856259-88927094",
                            "ensembl_id": "ENSG00000172071"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:88556741-88627576",
                            "ensembl_id": "ENSG00000172071"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-06-14"
            },
            "entity_type": "gene",
            "entity_name": "EIF2AK3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Wolcott-Rallison syndrome, MIM#226980"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "endocrine"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NE",
                    "HNE",
                    "HLE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3309",
                "gene_name": "elastase, neutrophil expressed",
                "omim_gene": [
                    "130130"
                ],
                "alias_name": [
                    "neutrophil elastase",
                    "leukocyte elastase",
                    "medullasin"
                ],
                "gene_symbol": "ELANE",
                "hgnc_symbol": "ELANE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:851014-856242",
                            "ensembl_id": "ENSG00000197561"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:851014-856247",
                            "ensembl_id": "ENSG00000197561"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-05-05"
            },
            "entity_type": "gene",
            "entity_name": "ELANE",
            "confidence_level": "3",
            "penetrance": null,
            "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",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Neutropenia, congenital, MIM#202700"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "immunological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "WBS",
                    "WS",
                    "SVAS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3327",
                "gene_name": "elastin",
                "omim_gene": [
                    "130160"
                ],
                "alias_name": [
                    "tropoelastin",
                    "supravalvular aortic stenosis",
                    "Williams-Beuren syndrome"
                ],
                "gene_symbol": "ELN",
                "hgnc_symbol": "ELN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:73442119-73484237",
                            "ensembl_id": "ENSG00000049540"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:74027789-74069907",
                            "ensembl_id": "ENSG00000049540"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ELN",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "cutis laxa, autosomal dominant 1 MONDO:0007411",
                "supravalvular aortic stenosis MONDO:0008504"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "IKAP",
                    "TOT1",
                    "IKI3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5959",
                "gene_name": "elongator complex protein 1",
                "omim_gene": [
                    "603722"
                ],
                "alias_name": [
                    "elongator acetyltransferase complex subunit 1"
                ],
                "gene_symbol": "ELP1",
                "hgnc_symbol": "ELP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:111629797-111696396",
                            "ensembl_id": "ENSG00000070061"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:108867517-108934116",
                            "ensembl_id": "ENSG00000070061"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-05-04"
            },
            "entity_type": "gene",
            "entity_name": "ELP1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Dysautonomia, familial MIM#223900",
                "paediatric medulloblastoma"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "STA",
                    "LEMD5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3331",
                "gene_name": "emerin",
                "omim_gene": [
                    "300384"
                ],
                "alias_name": [
                    "LEM domain containing 5"
                ],
                "gene_symbol": "EMD",
                "hgnc_symbol": "EMD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153607557-153609883",
                            "ensembl_id": "ENSG00000102119"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154379197-154381523",
                            "ensembl_id": "ENSG00000102119"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "EMD",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "END",
                    "HHT1",
                    "CD105"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3349",
                "gene_name": "endoglin",
                "omim_gene": [
                    "131195"
                ],
                "alias_name": null,
                "gene_symbol": "ENG",
                "hgnc_symbol": "ENG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:130577291-130617035",
                            "ensembl_id": "ENSG00000106991"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:127815012-127854756",
                            "ensembl_id": "ENSG00000106991"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "entity_type": "gene",
            "entity_name": "ENG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32894695"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "vascular"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PC-1",
                    "PCA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3356",
                "gene_name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
                "omim_gene": [
                    "173335"
                ],
                "alias_name": null,
                "gene_symbol": "ENPP1",
                "hgnc_symbol": "ENPP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:132129156-132216295",
                            "ensembl_id": "ENSG00000197594"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:131808016-131895155",
                            "ensembl_id": "ENSG00000197594"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "entity_type": "gene",
            "entity_name": "ENPP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Arterial calcification, generalized, of infancy, 1, MIM# 208000",
                "Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "endocrine",
                "vascular"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LDE",
                    "LD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3413",
                "gene_name": "EPM2A, laforin glucan phosphatase",
                "omim_gene": [
                    "607566"
                ],
                "alias_name": null,
                "gene_symbol": "EPM2A",
                "hgnc_symbol": "EPM2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:145822719-146057160",
                            "ensembl_id": "ENSG00000112425"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:145382535-145736023",
                            "ensembl_id": "ENSG00000112425"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-10-01"
            },
            "entity_type": "gene",
            "entity_name": "EPM2A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Lafora disease MONDO:0009697"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3420",
                "gene_name": "epidermal growth factor receptor pathway substrate 8",
                "omim_gene": [
                    "600206"
                ],
                "alias_name": null,
                "gene_symbol": "EPS8",
                "hgnc_symbol": "EPS8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:15773092-16035263",
                            "ensembl_id": "ENSG00000151491"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:15620158-15882329",
                            "ensembl_id": "ENSG00000151491"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-19"
            },
            "entity_type": "gene",
            "entity_name": "EPS8",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "deafness"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
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                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
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                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ21935",
                    "FLJ22171",
                    "MGC3088"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21296",
                "gene_name": "EPS8 like 2",
                "omim_gene": [
                    "614988"
                ],
                "alias_name": null,
                "gene_symbol": "EPS8L2",
                "hgnc_symbol": "EPS8L2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:694438-727727",
                            "ensembl_id": "ENSG00000177106"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:694438-727727",
                            "ensembl_id": "ENSG00000177106"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-06-05"
            },
            "entity_type": "gene",
            "entity_name": "EPS8L2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "Deafness, MIM#617637"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MAG",
                    "EM9",
                    "MGC102762",
                    "MGC126218",
                    "MGC126219",
                    "TFIIH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3434",
                "gene_name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
                "omim_gene": [
                    "126340"
                ],
                "alias_name": [
                    "excision repair cross-complementing rodent repair deficiency, complementation group 2 protein",
                    "TFIIH basal transcription factor complex helicase XPB subunit"
                ],
                "gene_symbol": "ERCC2",
                "hgnc_symbol": "ERCC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:45853095-45874176",
                            "ensembl_id": "ENSG00000104884"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:45349837-45370918",
                            "ensembl_id": "ENSG00000104884"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "ERCC2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Xeroderma pigmentosum, group D, MIM# 278730"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RAD1",
                    "FANCQ"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3436",
                "gene_name": "ERCC excision repair 4, endonuclease catalytic subunit",
                "omim_gene": [
                    "133520"
                ],
                "alias_name": [
                    "xeroderma pigmentosum, complementation group F"
                ],
                "gene_symbol": "ERCC4",
                "hgnc_symbol": "ERCC4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:14014014-14046202",
                            "ensembl_id": "ENSG00000175595"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:13920157-13952345",
                            "ensembl_id": "ENSG00000175595"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "ERCC4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anemia, complementation group Q, MIM# 615272"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3437",
                "gene_name": "ERCC excision repair 5, endonuclease",
                "omim_gene": [
                    "133530"
                ],
                "alias_name": [
                    "Cockayne syndrome"
                ],
                "gene_symbol": "ERCC5",
                "hgnc_symbol": "ERCC5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:103497194-103528345",
                            "ensembl_id": "ENSG00000134899"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:102844844-102876001",
                            "ensembl_id": "ENSG00000134899"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "ERCC5",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696",
                "Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
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                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CSB",
                    "RAD26",
                    "ARMD5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3438",
                "gene_name": "ERCC excision repair 6, chromatin remodeling factor",
                "omim_gene": [
                    "609413"
                ],
                "alias_name": [
                    "Cockayne syndrome B protein"
                ],
                "gene_symbol": "ERCC6",
                "hgnc_symbol": "ERCC6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:50663414-50747584",
                            "ensembl_id": "ENSG00000225830"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:49455368-49539538",
                            "ensembl_id": "ENSG00000225830"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "ERCC6",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955",
                "Cockayne syndrome, type B, MIM# 133540 MONDO:0019570",
                "De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217",
                "UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
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                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
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                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CSA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3439",
                "gene_name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
                "omim_gene": [
                    "609412"
                ],
                "alias_name": null,
                "gene_symbol": "ERCC8",
                "hgnc_symbol": "ERCC8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:60169658-60240900",
                            "ensembl_id": "ENSG00000049167"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:60873831-60945073",
                            "ensembl_id": "ENSG00000049167"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-02-07"
            },
            "entity_type": "gene",
            "entity_name": "ERCC8",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Cockayne syndrome, type A, MIM# 216400",
                "MONDO:0019569"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EFO2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:27230",
                "gene_name": "establishment of sister chromatid cohesion N-acetyltransferase 2",
                "omim_gene": [
                    "609353"
                ],
                "alias_name": null,
                "gene_symbol": "ESCO2",
                "hgnc_symbol": "ESCO2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:27629466-27670157",
                            "ensembl_id": "ENSG00000171320"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:27771949-27812640",
                            "ensembl_id": "ENSG00000171320"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-04"
            },
            "entity_type": "gene",
            "entity_name": "ESCO2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Juberg-Hayward syndrome, MIM# 216100",
                "Roberts-SC phocomelia syndrome, MIM#268300"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
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                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13281",
                "gene_name": "espin",
                "omim_gene": [
                    "606351"
                ],
                "alias_name": null,
                "gene_symbol": "ESPN",
                "hgnc_symbol": "ESPN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:6484848-6521430",
                            "ensembl_id": "ENSG00000187017"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:6424788-6461370",
                            "ensembl_id": "ENSG00000187017"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-12-05"
            },
            "entity_type": "gene",
            "entity_name": "ESPN",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "26445815",
                "28281779",
                "10975527",
                "18973245",
                "15930085",
                "15286153"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Deafness, autosomal recessive 36, MIM# 609006"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "deafness"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ERR2",
                    "ERRbeta",
                    "NR3B2",
                    "ERRb"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3473",
                "gene_name": "estrogen related receptor beta",
                "omim_gene": [
                    "602167"
                ],
                "alias_name": null,
                "gene_symbol": "ESRRB",
                "hgnc_symbol": "ESRRB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:76776957-76968178",
                            "ensembl_id": "ENSG00000119715"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:76310614-76501841",
                            "ensembl_id": "ENSG00000119715"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-04-25"
            },
            "entity_type": "gene",
            "entity_name": "ESRRB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Deafness, autosomal recessive 35, MIM#608565"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "deafness"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GA2",
                    "EMA",
                    "MADD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3481",
                "gene_name": "electron transfer flavoprotein alpha subunit",
                "omim_gene": [
                    "608053"
                ],
                "alias_name": [
                    "glutaric aciduria II"
                ],
                "gene_symbol": "ETFA",
                "hgnc_symbol": "ETFA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:76507696-76603813",
                            "ensembl_id": "ENSG00000140374"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:76215355-76311472",
                            "ensembl_id": "ENSG00000140374"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ETFA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "31904027"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Glutaric acidaemia IIA, MIM#231680"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3482",
                "gene_name": "electron transfer flavoprotein beta subunit",
                "omim_gene": [
                    "130410"
                ],
                "alias_name": null,
                "gene_symbol": "ETFB",
                "hgnc_symbol": "ETFB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:51848423-51869672",
                            "ensembl_id": "ENSG00000105379"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:51345169-51366418",
                            "ensembl_id": "ENSG00000105379"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-06-11"
            },
            "entity_type": "gene",
            "entity_name": "ETFB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Glutaric acidemia IIB, MIM#231680"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ETFQO"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3483",
                "gene_name": "electron transfer flavoprotein dehydrogenase",
                "omim_gene": [
                    "231675"
                ],
                "alias_name": null,
                "gene_symbol": "ETFDH",
                "hgnc_symbol": "ETFDH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:159593277-159630775",
                            "ensembl_id": "ENSG00000171503"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:158672125-158709623",
                            "ensembl_id": "ENSG00000171503"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-13"
            },
            "entity_type": "gene",
            "entity_name": "ETFDH",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "31904027"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Glutaric acidemia IIC, MIM#231680"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "YF13H12",
                    "HSCO"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23287",
                "gene_name": "ETHE1, persulfide dioxygenase",
                "omim_gene": [
                    "608451"
                ],
                "alias_name": null,
                "gene_symbol": "ETHE1",
                "hgnc_symbol": "ETHE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:44010871-44031396",
                            "ensembl_id": "ENSG00000105755"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:43506719-43527244",
                            "ensembl_id": "ENSG00000105755"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-12-15"
            },
            "entity_type": "gene",
            "entity_name": "ETHE1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Ethylmalonic encephalopathy, MIM#602473"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DWF-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3497",
                "gene_name": "EvC ciliary complex subunit 1",
                "omim_gene": [
                    "604831"
                ],
                "alias_name": null,
                "gene_symbol": "EVC",
                "hgnc_symbol": "EVC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:5712924-5830772",
                            "ensembl_id": "ENSG00000072840"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:5711197-5814305",
                            "ensembl_id": "ENSG00000072840"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-04-24"
            },
            "entity_type": "gene",
            "entity_name": "EVC",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ellis-van Creveld syndrome, MIM# 225500"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "LBN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19747",
                "gene_name": "EvC ciliary complex subunit 2",
                "omim_gene": [
                    "607261"
                ],
                "alias_name": [
                    "limbin"
                ],
                "gene_symbol": "EVC2",
                "hgnc_symbol": "EVC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:5544499-5711275",
                            "ensembl_id": "ENSG00000173040"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:5542772-5709548",
                            "ensembl_id": "ENSG00000173040"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-04-11"
            },
            "entity_type": "gene",
            "entity_name": "EVC2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ellis-van Creveld syndrome, MIM# 225500",
                "Weyers acrofacial dysostosis, MIM# 193530"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ttv"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3512",
                "gene_name": "exostosin glycosyltransferase 1",
                "omim_gene": [
                    "608177"
                ],
                "alias_name": [
                    "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase",
                    "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"
                ],
                "gene_symbol": "EXT1",
                "hgnc_symbol": "EXT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:118806729-119124092",
                            "ensembl_id": "ENSG00000182197"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:117794490-118111853",
                            "ensembl_id": "ENSG00000182197"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-05-04"
            },
            "entity_type": "gene",
            "entity_name": "EXT1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Exostoses, multiple, type 1, MIM# 133700"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SOTV"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3513",
                "gene_name": "exostosin glycosyltransferase 2",
                "omim_gene": [
                    "608210"
                ],
                "alias_name": [
                    "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase",
                    "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"
                ],
                "gene_symbol": "EXT2",
                "hgnc_symbol": "EXT2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:44117099-44266979",
                            "ensembl_id": "ENSG00000151348"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:44095549-44245429",
                            "ensembl_id": "ENSG00000151348"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-06-01"
            },
            "entity_type": "gene",
            "entity_name": "EXT2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Seizures, scoliosis, and macrocephaly syndrome, MIM#616682"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3519",
                "gene_name": "EYA transcriptional coactivator and phosphatase 1",
                "omim_gene": [
                    "601653"
                ],
                "alias_name": null,
                "gene_symbol": "EYA1",
                "hgnc_symbol": "EYA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:72109668-72274467",
                            "ensembl_id": "ENSG00000104313"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:71197433-71362232",
                            "ensembl_id": "ENSG00000104313"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-12-12"
            },
            "entity_type": "gene",
            "entity_name": "EYA1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Anterior segment anomalies with or without cataract MIM#602588",
                "Branchiootic syndrome 1 MIM#602588",
                "Branchiootorenal syndrome 1, with or without cataracts MIM#113650"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3522",
                "gene_name": "EYA transcriptional coactivator and phosphatase 4",
                "omim_gene": [
                    "603550"
                ],
                "alias_name": null,
                "gene_symbol": "EYA4",
                "hgnc_symbol": "EYA4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:133561736-133853258",
                            "ensembl_id": "ENSG00000112319"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:133240598-133532120",
                            "ensembl_id": "ENSG00000112319"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-15"
            },
            "entity_type": "gene",
            "entity_name": "EYA4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Deafness, autosomal dominant 10, MIM# 601316"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "EZH1",
                    "ENX-1",
                    "KMT6",
                    "KMT6A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3527",
                "gene_name": "enhancer of zeste 2 polycomb repressive complex 2 subunit",
                "omim_gene": [
                    "601573"
                ],
                "alias_name": null,
                "gene_symbol": "EZH2",
                "hgnc_symbol": "EZH2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:148504475-148581413",
                            "ensembl_id": "ENSG00000106462"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:148807383-148884321",
                            "ensembl_id": "ENSG00000106462"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-12-21"
            },
            "entity_type": "gene",
            "entity_name": "EZH2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Weaver syndrome MIM#277590"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3528",
                "gene_name": "coagulation factor X",
                "omim_gene": [
                    "613872"
                ],
                "alias_name": null,
                "gene_symbol": "F10",
                "hgnc_symbol": "F10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:113777128-113803843",
                            "ensembl_id": "ENSG00000126218"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:113122814-113149529",
                            "ensembl_id": "ENSG00000126218"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F10",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Factor X deficiency, MIM#\t227600"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FXI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3529",
                "gene_name": "coagulation factor XI",
                "omim_gene": [
                    "264900"
                ],
                "alias_name": [
                    "plasma thromboplastin antecedent"
                ],
                "gene_symbol": "F11",
                "hgnc_symbol": "F11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:187187099-187210835",
                            "ensembl_id": "ENSG00000088926"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:186265945-186288806",
                            "ensembl_id": "ENSG00000088926"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "entity_type": "gene",
            "entity_name": "F11",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Factor XI deficiency, autosomal dominant 612416",
                "Factor XI deficiency, autosomal recessive, MIM#612416"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3531",
                "gene_name": "coagulation factor XIII A chain",
                "omim_gene": [
                    "134570"
                ],
                "alias_name": null,
                "gene_symbol": "F13A1",
                "hgnc_symbol": "F13A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:6144318-6321246",
                            "ensembl_id": "ENSG00000124491"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:6144085-6321013",
                            "ensembl_id": "ENSG00000124491"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F13A1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS",
                "Expert list"
            ],
            "phenotypes": [
                "Factor XIIIA deficiency, MIM#\t613225"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FXIIIB"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3534",
                "gene_name": "coagulation factor XIII B chain",
                "omim_gene": [
                    "134580"
                ],
                "alias_name": null,
                "gene_symbol": "F13B",
                "hgnc_symbol": "F13B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:197008321-197036397",
                            "ensembl_id": "ENSG00000143278"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:197039191-197067267",
                            "ensembl_id": "ENSG00000143278"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F13B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "PMID: 31013569"
            ],
            "evidence": [
                "Expert Review Green",
                "Expert list",
                "BeginNGS"
            ],
            "phenotypes": [
                "Factor XIIIB deficiency, MIM#613235"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3535",
                "gene_name": "coagulation factor II, thrombin",
                "omim_gene": [
                    "176930"
                ],
                "alias_name": [
                    "prepro-coagulation factor II"
                ],
                "gene_symbol": "F2",
                "hgnc_symbol": "F2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:46740730-46761056",
                            "ensembl_id": "ENSG00000180210"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:46719180-46739506",
                            "ensembl_id": "ENSG00000180210"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Dysprothrombinemia MIM#613679",
                "Hypoprothrombinemia MIM#613679",
                "Thrombophilia due to thrombin defect MIM#188050"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3542",
                "gene_name": "coagulation factor V",
                "omim_gene": [
                    "612309"
                ],
                "alias_name": null,
                "gene_symbol": "F5",
                "hgnc_symbol": "F5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:169483404-169555826",
                            "ensembl_id": "ENSG00000198734"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:169514166-169586588",
                            "ensembl_id": "ENSG00000198734"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F5",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Factor V deficiency, MIM# 227400 MONDO:0009210",
                "Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560",
                "{Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3544",
                "gene_name": "coagulation factor VII",
                "omim_gene": [
                    "613878"
                ],
                "alias_name": [
                    "eptacog alfa",
                    "FVII coagulation protein",
                    "factor VII"
                ],
                "gene_symbol": "F7",
                "hgnc_symbol": "F7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:113760105-113774995",
                            "ensembl_id": "ENSG00000057593"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:113105788-113120681",
                            "ensembl_id": "ENSG00000057593"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F7",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Factor VII deficiency MIM# 227500"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FVIII",
                    "DXS1253E",
                    "HEMA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3546",
                "gene_name": "coagulation factor VIII",
                "omim_gene": [
                    "300841"
                ],
                "alias_name": [
                    "Factor VIIIF8B",
                    "hemophilia A"
                ],
                "gene_symbol": "F8",
                "hgnc_symbol": "F8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:154064063-154255215",
                            "ensembl_id": "ENSG00000185010"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154835788-155026940",
                            "ensembl_id": "ENSG00000185010"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F8",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Haemophilia A, MIM#306700"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "treatable",
                "haematological",
                "technically challenging"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FIX"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3551",
                "gene_name": "coagulation factor IX",
                "omim_gene": [
                    "300746"
                ],
                "alias_name": [
                    "Factor IX",
                    "plasma thromboplastic component",
                    "Christmas disease",
                    "hemophilia B"
                ],
                "gene_symbol": "F9",
                "hgnc_symbol": "F9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:138612917-138645617",
                            "ensembl_id": "ENSG00000101981"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:139530758-139563458",
                            "ensembl_id": "ENSG00000101981"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "F9",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Haemophilia B, MIM#306900"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3579",
                "gene_name": "fumarylacetoacetate hydrolase",
                "omim_gene": [
                    "613871"
                ],
                "alias_name": [
                    "fumarylacetoacetase"
                ],
                "gene_symbol": "FAH",
                "hgnc_symbol": "FAH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:80444832-80479288",
                            "ensembl_id": "ENSG00000103876"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:80152490-80186946",
                            "ensembl_id": "ENSG00000103876"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-07"
            },
            "entity_type": "gene",
            "entity_name": "FAH",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Tyrosinaemia, type I, MIM#276700"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "metabolic"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DRCTNNB1A",
                    "HCC",
                    "HYCC1",
                    "hyccin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24587",
                "gene_name": "family with sequence similarity 126 member A",
                "omim_gene": [
                    "610531"
                ],
                "alias_name": [
                    "down regulated by Ctnnb1, a"
                ],
                "gene_symbol": "FAM126A",
                "hgnc_symbol": "FAM126A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:22980878-23053749",
                            "ensembl_id": "ENSG00000122591"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:22889371-23014130",
                            "ensembl_id": "ENSG00000122591"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-09-06"
            },
            "entity_type": "gene",
            "entity_name": "FAM126A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hypomyelinating leukodystrophy 5 MONDO:0012514"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ13305"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25808",
                "gene_name": "family with sequence similarity 161 member A",
                "omim_gene": [
                    "613596"
                ],
                "alias_name": null,
                "gene_symbol": "FAM161A",
                "hgnc_symbol": "FAM161A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:62051989-62081278",
                            "ensembl_id": "ENSG00000170264"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:61824854-61854143",
                            "ensembl_id": "ENSG00000170264"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-06-05"
            },
            "entity_type": "gene",
            "entity_name": "FAM161A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Retinitis pigmentosa 28, 606068"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
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                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "IMAGE:4942737",
                    "DKFZp547D065",
                    "DMP4",
                    "G-CK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:22140",
                "gene_name": "FAM20C, golgi associated secretory pathway kinase",
                "omim_gene": [
                    "611061"
                ],
                "alias_name": [
                    "dentin matrix protein 4",
                    "golgi casein kinase"
                ],
                "gene_symbol": "FAM20C",
                "hgnc_symbol": "FAM20C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:192969-300711",
                            "ensembl_id": "ENSG00000177706"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:192969-260745",
                            "ensembl_id": "ENSG00000177706"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-09-03"
            },
            "entity_type": "gene",
            "entity_name": "FAM20C",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Raine syndrome, MIM# 259775"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
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                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28434",
                "gene_name": "cyclin Q",
                "omim_gene": [
                    "300708"
                ],
                "alias_name": null,
                "gene_symbol": "FAM58A",
                "hgnc_symbol": "CCNQ",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch38": {
                        "90": {
                            "location": "X:153587919-153600045",
                            "ensembl_id": "ENSG00000262919"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-07-14"
            },
            "entity_type": "gene",
            "entity_name": "FAM58A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAA",
                    "FA-H",
                    "FAH"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3582",
                "gene_name": "Fanconi anemia complementation group A",
                "omim_gene": [
                    "607139"
                ],
                "alias_name": null,
                "gene_symbol": "FANCA",
                "hgnc_symbol": "FANCA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:89803957-89883065",
                            "ensembl_id": "ENSG00000187741"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:89737549-89816657",
                            "ensembl_id": "ENSG00000187741"
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                    }
                },
                "hgnc_date_symbol_changed": "1995-12-22"
            },
            "entity_type": "gene",
            "entity_name": "FANCA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anaemia, complementation group A, MIM# 227650",
                "MONDO:0009215"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
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                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAB",
                    "FLJ34064",
                    "FAAP95"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3583",
                "gene_name": "Fanconi anemia complementation group B",
                "omim_gene": [
                    "300515"
                ],
                "alias_name": null,
                "gene_symbol": "FANCB",
                "hgnc_symbol": "FANCB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:14861529-14891191",
                            "ensembl_id": "ENSG00000181544"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:14843407-14873069",
                            "ensembl_id": "ENSG00000181544"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "entity_type": "gene",
            "entity_name": "FANCB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anaemia, complementation group B, MIM# 300514"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAC",
                    "FA3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3584",
                "gene_name": "Fanconi anemia complementation group C",
                "omim_gene": [
                    "613899"
                ],
                "alias_name": null,
                "gene_symbol": "FANCC",
                "hgnc_symbol": "FANCC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:97861336-98079991",
                            "ensembl_id": "ENSG00000158169"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:95099054-95426796",
                            "ensembl_id": "ENSG00000158169"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-25"
            },
            "entity_type": "gene",
            "entity_name": "FANCC",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anemia, complementation group C, MIM# 227645",
                "MONDO:0009213"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAD",
                    "FA-D2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3585",
                "gene_name": "Fanconi anemia complementation group D2",
                "omim_gene": [
                    "613984"
                ],
                "alias_name": null,
                "gene_symbol": "FANCD2",
                "hgnc_symbol": "FANCD2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:10068098-10143614",
                            "ensembl_id": "ENSG00000144554"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:10026414-10101930",
                            "ensembl_id": "ENSG00000144554"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-10-05"
            },
            "entity_type": "gene",
            "entity_name": "FANCD2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anaemia, complementation group D2, MIM# 227646",
                "MONDO:0009214"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAE"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3586",
                "gene_name": "Fanconi anemia complementation group E",
                "omim_gene": [
                    "613976"
                ],
                "alias_name": null,
                "gene_symbol": "FANCE",
                "hgnc_symbol": "FANCE",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:35420138-35434880",
                            "ensembl_id": "ENSG00000112039"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:35452361-35467103",
                            "ensembl_id": "ENSG00000112039"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-04-09"
            },
            "entity_type": "gene",
            "entity_name": "FANCE",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "BabySeq Category C gene",
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anaemia",
                "Fanconi anaemia, MIM#600901"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3587",
                "gene_name": "Fanconi anemia complementation group F",
                "omim_gene": [
                    "613897"
                ],
                "alias_name": null,
                "gene_symbol": "FANCF",
                "hgnc_symbol": "FANCF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:22644079-22647387",
                            "ensembl_id": "ENSG00000183161"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:22622519-22626787",
                            "ensembl_id": "ENSG00000183161"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "entity_type": "gene",
            "entity_name": "FANCF",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "BabySeq Category C gene",
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anaemia, MIM#603467",
                "Fanconi anaemia"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
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                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FAG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3588",
                "gene_name": "Fanconi anemia complementation group G",
                "omim_gene": [
                    "602956"
                ],
                "alias_name": [
                    "DNA repair protein XRCC9",
                    "X-ray repair, complementing defective, in Chinese hamster, 9",
                    "X-ray repair complementing defective repair in Chinese hamster cells 9"
                ],
                "gene_symbol": "FANCG",
                "hgnc_symbol": "FANCG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:35073832-35080013",
                            "ensembl_id": "ENSG00000221829"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:35073835-35080016",
                            "ensembl_id": "ENSG00000221829"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-26"
            },
            "entity_type": "gene",
            "entity_name": "FANCG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Fanconi anaemia, MIM#614082"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ10719"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25568",
                "gene_name": "Fanconi anemia complementation group I",
                "omim_gene": [
                    "611360"
                ],
                "alias_name": null,
                "gene_symbol": "FANCI",
                "hgnc_symbol": "FANCI",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:89787180-89860492",
                            "ensembl_id": "ENSG00000140525"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:89243949-89317261",
                            "ensembl_id": "ENSG00000140525"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-05-03"
            },
            "entity_type": "gene",
            "entity_name": "FANCI",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Fanconi anaemia, MIM#609053"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ10335",
                    "FAAP43",
                    "Pog"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20748",
                "gene_name": "Fanconi anemia complementation group L",
                "omim_gene": [
                    "608111"
                ],
                "alias_name": null,
                "gene_symbol": "FANCL",
                "hgnc_symbol": "FANCL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:58386378-58468507",
                            "ensembl_id": "ENSG00000115392"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:58159243-58241372",
                            "ensembl_id": "ENSG00000115392"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-15"
            },
            "entity_type": "gene",
            "entity_name": "FANCL",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "BabySeq Category C gene",
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anaemia",
                "Fanconi anaemia, MIM#614083"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CD95",
                    "APO-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11920",
                "gene_name": "Fas cell surface death receptor",
                "omim_gene": [
                    "134637"
                ],
                "alias_name": [
                    "TNF receptor superfamily member 6"
                ],
                "gene_symbol": "FAS",
                "hgnc_symbol": "FAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:90750414-90775542",
                            "ensembl_id": "ENSG00000026103"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:88990582-89015785",
                            "ensembl_id": "ENSG00000026103"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-07"
            },
            "entity_type": "gene",
            "entity_name": "FAS",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Autoimmune lymphoproliferative syndrome, type IA, MIM#\t601859"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        }
    ]
}