Gene Search List

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    "count": 35518,
    "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=322",
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    "results": [
        {
            "gene_data": {
                "alias": [
                    "HCS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4976",
                "gene_name": "holocarboxylase synthetase",
                "omim_gene": [
                    "609018"
                ],
                "alias_name": null,
                "gene_symbol": "HLCS",
                "hgnc_symbol": "HLCS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:38123189-38362536",
                            "ensembl_id": "ENSG00000159267"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:36750888-36990236",
                            "ensembl_id": "ENSG00000159267"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-15"
            },
            "entity_type": "gene",
            "entity_name": "HLCS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Holocarboxylase synthetase deficiency, MIM#253270"
            ],
            "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": [
                    "HL"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5005",
                "gene_name": "3-hydroxymethyl-3-methylglutaryl-CoA lyase",
                "omim_gene": [
                    "613898"
                ],
                "alias_name": [
                    "hydroxymethylglutaricaciduria"
                ],
                "gene_symbol": "HMGCL",
                "hgnc_symbol": "HMGCL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:24128375-24165110",
                            "ensembl_id": "ENSG00000117305"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:23801885-23838620",
                            "ensembl_id": "ENSG00000117305"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-13"
            },
            "entity_type": "gene",
            "entity_name": "HMGCL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "3-hydroxy-3-methylglutaric aciduria, MIM#246450"
            ],
            "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": [
                    "HNF1",
                    "LFB1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11621",
                "gene_name": "HNF1 homeobox A",
                "omim_gene": [
                    "142410"
                ],
                "alias_name": null,
                "gene_symbol": "HNF1A",
                "hgnc_symbol": "HNF1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:121416346-121440315",
                            "ensembl_id": "ENSG00000135100"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:120978543-121002512",
                            "ensembl_id": "ENSG00000135100"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-08-24"
            },
            "entity_type": "gene",
            "entity_name": "HNF1A",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BeginNGS"
            ],
            "phenotypes": [
                "MODY, type III\t, MIM#600496"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "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": [
                    "NR2A1",
                    "HNF4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5024",
                "gene_name": "hepatocyte nuclear factor 4 alpha",
                "omim_gene": [
                    "600281"
                ],
                "alias_name": null,
                "gene_symbol": "HNF4A",
                "hgnc_symbol": "HNF4A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:42984340-43061485",
                            "ensembl_id": "ENSG00000101076"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:44355700-44434596",
                            "ensembl_id": "ENSG00000101076"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-20"
            },
            "entity_type": "gene",
            "entity_name": "HNF4A",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category C gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#\t616026",
                "Hypoglycaemia, hyperinsulinaemic, MIM#125850",
                "MODY, type I, OMIM # 125850"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "for review",
                "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": [
                    "CPD",
                    "Cupidin",
                    "Vesl-2",
                    "HOMER-2B",
                    "HOMER-2",
                    "HOMER-2A",
                    "DFNA68"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17513",
                "gene_name": "homer scaffolding protein 2",
                "omim_gene": [
                    "604799"
                ],
                "alias_name": null,
                "gene_symbol": "HOMER2",
                "hgnc_symbol": "HOMER2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:83509838-83654661",
                            "ensembl_id": "ENSG00000103942"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:82836946-82986153",
                            "ensembl_id": "ENSG00000103942"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-28"
            },
            "entity_type": "gene",
            "entity_name": "HOMER2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "Deafness, autosomal dominant 68, MIM# 616707"
            ],
            "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": [
                    "4-HPPD",
                    "4HPPD",
                    "GLOD3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5147",
                "gene_name": "4-hydroxyphenylpyruvate dioxygenase",
                "omim_gene": [
                    "609695"
                ],
                "alias_name": [
                    "glyoxalase domain containing 3"
                ],
                "gene_symbol": "HPD",
                "hgnc_symbol": "HPD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:122277433-122301502",
                            "ensembl_id": "ENSG00000158104"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:121839527-121863596",
                            "ensembl_id": "ENSG00000158104"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "entity_type": "gene",
            "entity_name": "HPD",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "9343288",
                "32520295",
                "11916315"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Tyrosinemia, type III",
                "Hawkinsinuria\t, MIM#140350",
                "Tyrosinaemia, type III\t276710"
            ],
            "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": [
                    "HGPRT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5157",
                "gene_name": "hypoxanthine phosphoribosyltransferase 1",
                "omim_gene": [
                    "308000"
                ],
                "alias_name": [
                    "Lesch-Nyhan syndrome"
                ],
                "gene_symbol": "HPRT1",
                "hgnc_symbol": "HPRT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:133594183-133654543",
                            "ensembl_id": "ENSG00000165704"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:134460153-134520513",
                            "ensembl_id": "ENSG00000165704"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "HPRT1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18067674"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Lesch-Nyhan syndrome, MIM# 300322"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "for review"
            ],
            "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": [
                    "BLOC3S1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5163",
                "gene_name": "HPS1, biogenesis of lysosomal organelles complex 3 subunit 1",
                "omim_gene": [
                    "604982"
                ],
                "alias_name": null,
                "gene_symbol": "HPS1",
                "hgnc_symbol": "HPS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:100175955-100206684",
                            "ensembl_id": "ENSG00000107521"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:98416198-98446947",
                            "ensembl_id": "ENSG00000107521"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-05-01"
            },
            "entity_type": "gene",
            "entity_name": "HPS1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hermansky-Pudlak syndrome 1, MIM# 203300"
            ],
            "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": [
                    "SUTAL",
                    "BLOC2S1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15597",
                "gene_name": "HPS3, biogenesis of lysosomal organelles complex 2 subunit 1",
                "omim_gene": [
                    "606118"
                ],
                "alias_name": null,
                "gene_symbol": "HPS3",
                "hgnc_symbol": "HPS3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:148847371-148891519",
                            "ensembl_id": "ENSG00000163755"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:149129584-149173732",
                            "ensembl_id": "ENSG00000163755"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-13"
            },
            "entity_type": "gene",
            "entity_name": "HPS3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hermansky-Pudlak syndrome 3, MIM# 614072"
            ],
            "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": [
                    "KIAA1667",
                    "LE",
                    "BLOC3S2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15844",
                "gene_name": "HPS4, biogenesis of lysosomal organelles complex 3 subunit 2",
                "omim_gene": [
                    "606682"
                ],
                "alias_name": null,
                "gene_symbol": "HPS4",
                "hgnc_symbol": "HPS4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:26839389-26879803",
                            "ensembl_id": "ENSG00000100099"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:26443423-26483837",
                            "ensembl_id": "ENSG00000100099"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-28"
            },
            "entity_type": "gene",
            "entity_name": "HPS4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hermansky-Pudlak syndrome 4, MIM# 614073"
            ],
            "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": [
                    "BLOC2S2",
                    "AIBP63",
                    "RU2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17022",
                "gene_name": "HPS5, biogenesis of lysosomal organelles complex 2 subunit 2",
                "omim_gene": [
                    "607521"
                ],
                "alias_name": [
                    "alpha-integrin-binding protein 63",
                    "Ruby-eye protein 2 homolog"
                ],
                "gene_symbol": "HPS5",
                "hgnc_symbol": "HPS5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:18300223-18343745",
                            "ensembl_id": "ENSG00000110756"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:18278668-18322198",
                            "ensembl_id": "ENSG00000110756"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-06-13"
            },
            "entity_type": "gene",
            "entity_name": "HPS5",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hermansky-Pudlak syndrome 5 (MIM#614074)"
            ],
            "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:5173",
                "gene_name": "HRas proto-oncogene, GTPase",
                "omim_gene": [
                    "190020"
                ],
                "alias_name": null,
                "gene_symbol": "HRAS",
                "hgnc_symbol": "HRAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:532242-537287",
                            "ensembl_id": "ENSG00000174775"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:532242-537287",
                            "ensembl_id": "ENSG00000174775"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "HRAS",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Costello syndrome, MIM# 218040"
            ],
            "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": [
                    "ERAB",
                    "MHBD",
                    "17b-HSD10",
                    "ABAD",
                    "SDR5C1",
                    "MRPP2",
                    "CAMR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4800",
                "gene_name": "hydroxysteroid 17-beta dehydrogenase 10",
                "omim_gene": [
                    "300256"
                ],
                "alias_name": [
                    "type 10 17b-HSD",
                    "type 10 17beta-hydroxysteroid dehydrogenase",
                    "AB-binding alcohol dehydrogenase",
                    "short chain dehydrogenase/reductase family 5C, member 1",
                    "mitochondrial RNase P subunit 2"
                ],
                "gene_symbol": "HSD17B10",
                "hgnc_symbol": "HSD17B10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:53458206-53461320",
                            "ensembl_id": "ENSG00000072506"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:53431258-53434373",
                            "ensembl_id": "ENSG00000072506"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-11-22"
            },
            "entity_type": "gene",
            "entity_name": "HSD17B10",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22127393"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "HSD10 mitochondrial disease, MIM# 300438"
            ],
            "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": [
                    "SDR12C2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5212",
                "gene_name": "hydroxysteroid 17-beta dehydrogenase 3",
                "omim_gene": [
                    "605573"
                ],
                "alias_name": [
                    "short chain dehydrogenase/reductase family 12C, member 2"
                ],
                "gene_symbol": "HSD17B3",
                "hgnc_symbol": "HSD17B3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:98997588-99064434",
                            "ensembl_id": "ENSG00000130948"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:96235306-96302152",
                            "ensembl_id": "ENSG00000130948"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-09-14"
            },
            "entity_type": "gene",
            "entity_name": "HSD17B3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Pseudohermaphroditism, male, with gynecomastia MIM#264300"
            ],
            "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": [
                    "MFE-2",
                    "DBP",
                    "SDR8C1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5213",
                "gene_name": "hydroxysteroid 17-beta dehydrogenase 4",
                "omim_gene": [
                    "601860"
                ],
                "alias_name": [
                    "17beta-estradiol dehydrogenase type IV",
                    "peroxisomal multifunctional protein 2",
                    "17-beta-HSD IV",
                    "17-beta-hydroxysteroid dehydrogenase 4",
                    "D-bifunctional protein, peroxisomal",
                    "D-3-hydroxyacyl-CoA dehydratase",
                    "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
                    "beta-keto-reductase",
                    "beta-hydroxyacyl dehydrogenase",
                    "short chain dehydrogenase/reductase family 8C, member 1"
                ],
                "gene_symbol": "HSD17B4",
                "hgnc_symbol": "HSD17B4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:118788138-118972894",
                            "ensembl_id": "ENSG00000133835"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:119452443-119637199",
                            "ensembl_id": "ENSG00000133835"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-09-14"
            },
            "entity_type": "gene",
            "entity_name": "HSD17B4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "D-bifunctional protein deficiency, AR (MIM#261515)",
                "Perrault syndrome 1, AR (MIM#233400)"
            ],
            "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": [
                    "SDR11E2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5218",
                "gene_name": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2",
                "omim_gene": [
                    "613890"
                ],
                "alias_name": [
                    "short chain dehydrogenase/reductase family 11E, member 2"
                ],
                "gene_symbol": "HSD3B2",
                "hgnc_symbol": "HSD3B2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:119957554-119965658",
                            "ensembl_id": "ENSG00000203859"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:119414931-119423035",
                            "ensembl_id": "ENSG00000203859"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-09-10"
            },
            "entity_type": "gene",
            "entity_name": "HSD3B2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS",
                "Expert list"
            ],
            "phenotypes": [
                "Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810"
            ],
            "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": [
                    "C(27)-3BETA-HSD",
                    "SDR11E3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18324",
                "gene_name": "hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7",
                "omim_gene": [
                    "607764"
                ],
                "alias_name": [
                    "short chain dehydrogenase/reductase family 11E, member 3"
                ],
                "gene_symbol": "HSD3B7",
                "hgnc_symbol": "HSD3B7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:30996519-31000473",
                            "ensembl_id": "ENSG00000099377"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:30985207-30989152",
                            "ensembl_id": "ENSG00000099377"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-01-13"
            },
            "entity_type": "gene",
            "entity_name": "HSD3B7",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Bile acid synthesis defect, congenital, 1 MIM#607765"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "liver"
            ],
            "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": [
                    "H11",
                    "E2IG1",
                    "HSP22",
                    "HspB8",
                    "CMT2L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30171",
                "gene_name": "heat shock protein family B (small) member 8",
                "omim_gene": [
                    "608014"
                ],
                "alias_name": null,
                "gene_symbol": "HSPB8",
                "hgnc_symbol": "HSPB8",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:119616447-119658936",
                            "ensembl_id": "ENSG00000152137"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:119178642-119221131",
                            "ensembl_id": "ENSG00000152137"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-01-29"
            },
            "entity_type": "gene",
            "entity_name": "HSPB8",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Neuropathy, distal hereditary motor type IIA, 158590",
                "Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673"
            ],
            "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": [
                    "perlecan",
                    "PRCAN"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5273",
                "gene_name": "heparan sulfate proteoglycan 2",
                "omim_gene": [
                    "142461"
                ],
                "alias_name": [
                    "perlecan proteoglycan"
                ],
                "gene_symbol": "HSPG2",
                "hgnc_symbol": "HSPG2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:22148738-22263790",
                            "ensembl_id": "ENSG00000142798"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:21822245-21937297",
                            "ensembl_id": "ENSG00000142798"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-16"
            },
            "entity_type": "gene",
            "entity_name": "HSPG2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Schwartz-Jampel syndrome, type 1, MIM# 255800",
                "MONDO:0009717",
                "Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410",
                "MONDO:0009140"
            ],
            "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": [
                    "HtrA",
                    "IGFBP5-protease",
                    "ARMD7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9476",
                "gene_name": "HtrA serine peptidase 1",
                "omim_gene": [
                    "602194"
                ],
                "alias_name": null,
                "gene_symbol": "HTRA1",
                "hgnc_symbol": "HTRA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:124221041-124274424",
                            "ensembl_id": "ENSG00000166033"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:122461525-122514908",
                            "ensembl_id": "ENSG00000166033"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-18"
            },
            "entity_type": "gene",
            "entity_name": "HTRA1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "CARASIL syndrome, MIM# 600142"
            ],
            "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:5389",
                "gene_name": "iduronate 2-sulfatase",
                "omim_gene": [
                    "300823"
                ],
                "alias_name": [
                    "Hunter syndrome"
                ],
                "gene_symbol": "IDS",
                "hgnc_symbol": "IDS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:148558521-148615470",
                            "ensembl_id": "ENSG00000010404"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:149476990-149521096",
                            "ensembl_id": "ENSG00000010404"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "IDS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "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": [
                    "MPS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5391",
                "gene_name": "iduronidase, alpha-L-",
                "omim_gene": [
                    "252800"
                ],
                "alias_name": null,
                "gene_symbol": "IDUA",
                "hgnc_symbol": "IDUA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:980785-998316",
                            "ensembl_id": "ENSG00000127415"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:986997-1004506",
                            "ensembl_id": "ENSG00000127415"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "IDUA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Mucopolysaccharidosis type 1, MONDO:0001586"
            ],
            "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": "IG_C_gene",
                "hgnc_id": "HGNC:5541",
                "gene_name": "immunoglobulin heavy constant mu",
                "omim_gene": [
                    "147020"
                ],
                "alias_name": null,
                "gene_symbol": "IGHM",
                "hgnc_symbol": "IGHM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:106320349-106322323",
                            "ensembl_id": "ENSG00000211899"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:105851708-105856218",
                            "ensembl_id": "ENSG00000211899"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "IGHM",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Agammaglobulinaemia 1, MIM#\t601495"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "immunological",
                "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": [
                    "ZFAND7",
                    "SMUBP2",
                    "CATF1",
                    "SMARD1",
                    "HCSA",
                    "HMN6",
                    "CMT2S"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5542",
                "gene_name": "immunoglobulin mu binding protein 2",
                "omim_gene": [
                    "600502"
                ],
                "alias_name": [
                    "cardiac transcription factor 1",
                    "zinc finger, AN1-type domain 7"
                ],
                "gene_symbol": "IGHMBP2",
                "hgnc_symbol": "IGHMBP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:68671310-68708070",
                            "ensembl_id": "ENSG00000132740"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:68903842-68940602",
                            "ensembl_id": "ENSG00000132740"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-15"
            },
            "entity_type": "gene",
            "entity_name": "IGHMBP2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Neuronopathy, distal hereditary motor, type VI, MIM# 604320",
                "Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155"
            ],
            "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": [
                    "IGVPB",
                    "IGL5",
                    "14.1",
                    "CD179B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5870",
                "gene_name": "immunoglobulin lambda like polypeptide 1",
                "omim_gene": [
                    "146770"
                ],
                "alias_name": [
                    "lambda 5"
                ],
                "gene_symbol": "IGLL1",
                "hgnc_symbol": "IGLL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:23915312-23922495",
                            "ensembl_id": "ENSG00000128322"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:23573125-23580308",
                            "ensembl_id": "ENSG00000128322"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-12"
            },
            "entity_type": "gene",
            "entity_name": "IGLL1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Agammaglobulinaemia 2, MIM#\t613500"
            ],
            "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": [
                    "KIAA0364",
                    "IGDC1",
                    "IGCD1",
                    "INHBP",
                    "MGC75490",
                    "PGSF2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5948",
                "gene_name": "immunoglobulin superfamily member 1",
                "omim_gene": [
                    "300137"
                ],
                "alias_name": null,
                "gene_symbol": "IGSF1",
                "hgnc_symbol": "IGSF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:130407480-130533677",
                            "ensembl_id": "ENSG00000147255"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:131273506-131578899",
                            "ensembl_id": "ENSG00000147255"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-27"
            },
            "entity_type": "gene",
            "entity_name": "IGSF1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hypothyroidism, central, and testicular enlargement, MIM# 300888"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "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": [
                    "IKK-gamma",
                    "NEMO",
                    "Fip3p",
                    "FIP-3",
                    "FIP3",
                    "ZC2HC9"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:5961",
                "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma",
                "omim_gene": [
                    "300248"
                ],
                "alias_name": null,
                "gene_symbol": "IKBKG",
                "hgnc_symbol": "IKBKG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153769414-153796782",
                            "ensembl_id": "ENSG00000073009"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:154541199-154565046",
                            "ensembl_id": "ENSG00000269335"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-09-30"
            },
            "entity_type": "gene",
            "entity_name": "IKBKG",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Immunodeficiency 33 (300636)"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "tags": [
                "for review",
                "treatable",
                "immunological",
                "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": [
                    "HIL-10R",
                    "CDW210A",
                    "CD210a",
                    "CD210"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5964",
                "gene_name": "interleukin 10 receptor subunit alpha",
                "omim_gene": [
                    "146933"
                ],
                "alias_name": null,
                "gene_symbol": "IL10RA",
                "hgnc_symbol": "IL10RA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:117857063-117872196",
                            "ensembl_id": "ENSG00000110324"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:117986348-118003037",
                            "ensembl_id": "ENSG00000110324"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-05-12"
            },
            "entity_type": "gene",
            "entity_name": "IL10RA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148"
            ],
            "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": [
                    "CRF2-4",
                    "CDW210B",
                    "IL-10R2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:5965",
                "gene_name": "interleukin 10 receptor subunit beta",
                "omim_gene": [
                    "123889"
                ],
                "alias_name": null,
                "gene_symbol": "IL10RB",
                "hgnc_symbol": "IL10RB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:34638663-34669539",
                            "ensembl_id": "ENSG00000243646"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:33266358-33310187",
                            "ensembl_id": "ENSG00000243646"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-04-06"
            },
            "entity_type": "gene",
            "entity_name": "IL10RB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Inflammatory bowel disease 25, early onset, autosomal recessive, MIM#\t612567"
            ],
            "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": [
                    "CD122"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6009",
                "gene_name": "interleukin 2 receptor subunit beta",
                "omim_gene": [
                    "146710"
                ],
                "alias_name": null,
                "gene_symbol": "IL2RB",
                "hgnc_symbol": "IL2RB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:37521878-37571094",
                            "ensembl_id": "ENSG00000100385"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:37125838-37175054",
                            "ensembl_id": "ENSG00000100385"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-01-22"
            },
            "entity_type": "gene",
            "entity_name": "IL2RB",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Immunodeficiency 63 with lymphoproliferation and autoimmunity\t, MIM#618495"
            ],
            "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": [
                    "CD132"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6010",
                "gene_name": "interleukin 2 receptor subunit gamma",
                "omim_gene": [
                    "308380"
                ],
                "alias_name": null,
                "gene_symbol": "IL2RG",
                "hgnc_symbol": "IL2RG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:70327254-70331958",
                            "ensembl_id": "ENSG00000147168"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:71107404-71112108",
                            "ensembl_id": "ENSG00000147168"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-11-30"
            },
            "entity_type": "gene",
            "entity_name": "IL2RG",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Severe combined immunodeficiency, X-linked, MIM#312863"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
            "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": [
                    "CD127"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6024",
                "gene_name": "interleukin 7 receptor",
                "omim_gene": [
                    "146661"
                ],
                "alias_name": null,
                "gene_symbol": "IL7R",
                "hgnc_symbol": "IL7R",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:35852797-35879705",
                            "ensembl_id": "ENSG00000168685"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:35852695-35879603",
                            "ensembl_id": "ENSG00000168685"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-07"
            },
            "entity_type": "gene",
            "entity_name": "IL7R",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS",
                "Expert list"
            ],
            "phenotypes": [
                "Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971"
            ],
            "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": [
                    "MGC50831"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28741",
                "gene_name": "immunoglobulin like domain containing receptor 1",
                "omim_gene": [
                    "609739"
                ],
                "alias_name": null,
                "gene_symbol": "ILDR1",
                "hgnc_symbol": "ILDR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:121706170-121741051",
                            "ensembl_id": "ENSG00000145103"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:121987323-122022204",
                            "ensembl_id": "ENSG00000145103"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-07-27"
            },
            "entity_type": "gene",
            "entity_name": "ILDR1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Deafness, autosomal recessive 42, MIM# 609646"
            ],
            "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6081",
                "gene_name": "insulin",
                "omim_gene": [
                    "176730"
                ],
                "alias_name": null,
                "gene_symbol": "INS",
                "hgnc_symbol": "INS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:2181009-2182571",
                            "ensembl_id": "ENSG00000254647"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:2159779-2161341",
                            "ensembl_id": "ENSG00000254647"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "INS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS",
                "Expert list"
            ],
            "phenotypes": [
                "Diabetes mellitus, insulin-dependent, 2, MIM# 125852",
                "Diabetes mellitus, permanent neonatal 4, MIM# 618858",
                "Maturity-onset diabetes of the young, type 10, MIM# 613370"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "for review",
                "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": [
                    "CD220"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6091",
                "gene_name": "insulin receptor",
                "omim_gene": [
                    "147670"
                ],
                "alias_name": null,
                "gene_symbol": "INSR",
                "hgnc_symbol": "INSR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:7112266-7294045",
                            "ensembl_id": "ENSG00000171105"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:7112255-7294034",
                            "ensembl_id": "ENSG00000171105"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "INSR",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968",
                "Leprechaunism, MIM# 246200",
                "Rabson-Mendenhall syndrome, MIM# 262190"
            ],
            "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:17870",
                "gene_name": "inversin",
                "omim_gene": [
                    "243305"
                ],
                "alias_name": [
                    "nephrocystin 2"
                ],
                "gene_symbol": "INVS",
                "hgnc_symbol": "INVS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:102861538-103063282",
                            "ensembl_id": "ENSG00000119509"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:100099256-100301000",
                            "ensembl_id": "ENSG00000119509"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-06-11"
            },
            "entity_type": "gene",
            "entity_name": "INVS",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Nephronophthisis 2, infantile, (MIM#602088)"
            ],
            "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": [
                    "KIAA0036",
                    "NPHP5",
                    "SLSN5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:28949",
                "gene_name": "IQ motif containing B1",
                "omim_gene": [
                    "609237"
                ],
                "alias_name": [
                    "nephrocystin-5"
                ],
                "gene_symbol": "IQCB1",
                "hgnc_symbol": "IQCB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:121488610-121553926",
                            "ensembl_id": "ENSG00000173226"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:121769763-121835079",
                            "ensembl_id": "ENSG00000173226"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-03-05"
            },
            "entity_type": "gene",
            "entity_name": "IQCB1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Senior-Loken syndrome 5, MIM# 609254"
            ],
            "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": [
                    "NY-REN-64"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17967",
                "gene_name": "interleukin 1 receptor associated kinase 4",
                "omim_gene": [
                    "606883"
                ],
                "alias_name": null,
                "gene_symbol": "IRAK4",
                "hgnc_symbol": "IRAK4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:44152747-44183346",
                            "ensembl_id": "ENSG00000198001"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:43758944-43789543",
                            "ensembl_id": "ENSG00000198001"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-09-27"
            },
            "entity_type": "gene",
            "entity_name": "IRAK4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Immunodeficiency 67, MIM#\t607676"
            ],
            "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": [
                    "OFC6",
                    "VWS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6121",
                "gene_name": "interferon regulatory factor 6",
                "omim_gene": [
                    "607199"
                ],
                "alias_name": null,
                "gene_symbol": "IRF6",
                "hgnc_symbol": "IRF6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:209959036-209979465",
                            "ensembl_id": "ENSG00000117595"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:209785623-209806175",
                            "ensembl_id": "ENSG00000117595"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-16"
            },
            "entity_type": "gene",
            "entity_name": "IRF6",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Popliteal pterygium syndrome 1MIM#119500",
                "van der Woude syndrome MIM#119300"
            ],
            "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": [
                    "hCG_1745121",
                    "IspD",
                    "Nip"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37276",
                "gene_name": "isoprenoid synthase domain containing",
                "omim_gene": [
                    "614631"
                ],
                "alias_name": [
                    "notch1-induced protein",
                    "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"
                ],
                "gene_symbol": "ISPD",
                "hgnc_symbol": "ISPD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:16130817-16460947",
                            "ensembl_id": "ENSG00000214960"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:16087527-16421322",
                            "ensembl_id": "ENSG00000214960"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-10-02"
            },
            "entity_type": "gene",
            "entity_name": "ISPD",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052"
            ],
            "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": [
                    "CD49c",
                    "VLA3a",
                    "VCA-2",
                    "GAP-B3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6139",
                "gene_name": "integrin subunit alpha 3",
                "omim_gene": [
                    "605025"
                ],
                "alias_name": [
                    "alpha 3 subunit of VLA-3 receptor",
                    "antigen CD49C"
                ],
                "gene_symbol": "ITGA3",
                "hgnc_symbol": "ITGA3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:48133332-48167845",
                            "ensembl_id": "ENSG00000005884"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:50055968-50090481",
                            "ensembl_id": "ENSG00000005884"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-02-27"
            },
            "entity_type": "gene",
            "entity_name": "ITGA3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital"
            ],
            "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": [
                    "LFA-1",
                    "MAC-1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6155",
                "gene_name": "integrin subunit beta 2",
                "omim_gene": [
                    "600065"
                ],
                "alias_name": [
                    "complement component 3 receptor 3 and 4 subunit"
                ],
                "gene_symbol": "ITGB2",
                "hgnc_symbol": "ITGB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:46305868-46351904",
                            "ensembl_id": "ENSG00000160255"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:44885953-44931989",
                            "ensembl_id": "ENSG00000160255"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "ITGB2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Leukocyte adhesion deficiency, MIM#\t116920"
            ],
            "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": [
                    "CD104"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6158",
                "gene_name": "integrin subunit beta 4",
                "omim_gene": [
                    "147557"
                ],
                "alias_name": null,
                "gene_symbol": "ITGB4",
                "hgnc_symbol": "ITGB4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:73717408-73753899",
                            "ensembl_id": "ENSG00000132470"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:75721328-75757818",
                            "ensembl_id": "ENSG00000132470"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-06"
            },
            "entity_type": "gene",
            "entity_name": "ITGB4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Epidermolysis bullosa of hands and feet, MIM# 131800",
                "Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650",
                "Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730"
            ],
            "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": [
                    "ACAD2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6186",
                "gene_name": "isovaleryl-CoA dehydrogenase",
                "omim_gene": [
                    "607036"
                ],
                "alias_name": null,
                "gene_symbol": "IVD",
                "hgnc_symbol": "IVD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:40697686-40728146",
                            "ensembl_id": "ENSG00000128928"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:40405795-40435947",
                            "ensembl_id": "ENSG00000128928"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "IVD",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Isovaleric acidemia, MIM#243500"
            ],
            "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": [
                    "dJ422F24.1",
                    "DEHAL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21071",
                "gene_name": "iodotyrosine deiodinase",
                "omim_gene": [
                    "612025"
                ],
                "alias_name": null,
                "gene_symbol": "IYD",
                "hgnc_symbol": "IYD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:150690028-150727105",
                            "ensembl_id": "ENSG00000009765"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:150368892-150405969",
                            "ensembl_id": "ENSG00000009765"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-24"
            },
            "entity_type": "gene",
            "entity_name": "IYD",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18765512",
                "30240412",
                "18434651"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Thyroid dyshormonogenesis 4, MIM# 274800"
            ],
            "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": [
                    "AHD",
                    "AWS",
                    "HJ1",
                    "CD339"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6188",
                "gene_name": "jagged 1",
                "omim_gene": [
                    "601920"
                ],
                "alias_name": null,
                "gene_symbol": "JAG1",
                "hgnc_symbol": "JAG1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:10618332-10654694",
                            "ensembl_id": "ENSG00000101384"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:10637684-10674107",
                            "ensembl_id": "ENSG00000101384"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-05-22"
            },
            "entity_type": "gene",
            "entity_name": "JAG1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Alagille syndrome, MIM# 1 118450"
            ],
            "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": [
                    "L-JAK",
                    "JAKL",
                    "LJAK",
                    "JAK3_HUMAN",
                    "JAK-3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6193",
                "gene_name": "Janus kinase 3",
                "omim_gene": [
                    "600173"
                ],
                "alias_name": [
                    "tyrosine-protein kinase JAK3",
                    "leukocyte Janus kinase"
                ],
                "gene_symbol": "JAK3",
                "hgnc_symbol": "JAK3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:17935589-17958880",
                            "ensembl_id": "ENSG00000105639"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:17824780-17848071",
                            "ensembl_id": "ENSG00000105639"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-19"
            },
            "entity_type": "gene",
            "entity_name": "JAK3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "SCID, autosomal recessive, T-negative/B-positive type, MIM#600802"
            ],
            "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": [
                    "DKFZP727C091",
                    "MSL1v1",
                    "CENP-36",
                    "NSL1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24565",
                "gene_name": "KAT8 regulatory NSL complex subunit 1",
                "omim_gene": [
                    "612452"
                ],
                "alias_name": [
                    "centromere protein 36"
                ],
                "gene_symbol": "KANSL1",
                "hgnc_symbol": "KANSL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:44107282-44302733",
                            "ensembl_id": "ENSG00000120071"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:46029916-46225389",
                            "ensembl_id": "ENSG00000120071"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2012-02-20"
            },
            "entity_type": "gene",
            "entity_name": "KANSL1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Koolen-De Vries syndrome, MIM# 610443"
            ],
            "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": [
                    "KARS2",
                    "KARS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6215",
                "gene_name": "lysyl-tRNA synthetase",
                "omim_gene": [
                    "601421"
                ],
                "alias_name": [
                    "lysine tRNA ligase"
                ],
                "gene_symbol": "KARS",
                "hgnc_symbol": "KARS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:75661622-75682541",
                            "ensembl_id": "ENSG00000065427"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:75627474-75648643",
                            "ensembl_id": "ENSG00000065427"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-07-11"
            },
            "entity_type": "gene",
            "entity_name": "KARS",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "30737337",
                "30715177",
                "31116475"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Leukoencephalopathy with or without deafness (LEPID), MIM#619147",
                "Deafness, autosomal recessive 89, MIM# 613916",
                "Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196"
            ],
            "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": [
                    "querkopf",
                    "qkf",
                    "Morf",
                    "MOZ2",
                    "ZC2HC6B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17582",
                "gene_name": "lysine acetyltransferase 6B",
                "omim_gene": [
                    "605880"
                ],
                "alias_name": [
                    "MOZ-related factor"
                ],
                "gene_symbol": "KAT6B",
                "hgnc_symbol": "KAT6B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:76585340-76792380",
                            "ensembl_id": "ENSG00000156650"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:74825582-75032622",
                            "ensembl_id": "ENSG00000156650"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-07-21"
            },
            "entity_type": "gene",
            "entity_name": "KAT6B",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "SBBYSS syndrome MIM #603736",
                "Genitopatellar syndrome MIM #606170"
            ],
            "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": [
                    "hCG_1645727",
                    "NEM6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:37227",
                "gene_name": "kelch repeat and BTB domain containing 13",
                "omim_gene": [
                    "613727"
                ],
                "alias_name": [
                    "nemaline myopathy type 6"
                ],
                "gene_symbol": "KBTBD13",
                "hgnc_symbol": "KBTBD13",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:65369154-65372276",
                            "ensembl_id": "ENSG00000234438"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:65076816-65078192",
                            "ensembl_id": "ENSG00000234438"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2010-01-25"
            },
            "entity_type": "gene",
            "entity_name": "KBTBD13",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Nemaline myopathy 6, autosomal dominant, MIM# 609273",
                "Hereditary motor neuropathy late-onset",
                "limb girdle muscular dystrophy"
            ],
            "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": [
                    "Kv1.1",
                    "RBK1",
                    "HUK1",
                    "MBK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6218",
                "gene_name": "potassium voltage-gated channel subfamily A member 1",
                "omim_gene": [
                    "176260"
                ],
                "alias_name": null,
                "gene_symbol": "KCNA1",
                "hgnc_symbol": "KCNA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:5019071-5040527",
                            "ensembl_id": "ENSG00000111262"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:4909893-4918256",
                            "ensembl_id": "ENSG00000111262"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-08-13"
            },
            "entity_type": "gene",
            "entity_name": "KCNA1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Episodic ataxia/myokymia syndrome, MIM# 160120"
            ],
            "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": [
                    "Kir1.1",
                    "ROMK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6255",
                "gene_name": "potassium voltage-gated channel subfamily J member 1",
                "omim_gene": [
                    "600359"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ1",
                "hgnc_symbol": "KCNJ1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:128706210-128737268",
                            "ensembl_id": "ENSG00000151704"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:128836315-128867373",
                            "ensembl_id": "ENSG00000151704"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-08-03"
            },
            "entity_type": "gene",
            "entity_name": "KCNJ1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Bartter syndrome, type 2, 241200"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "renal"
            ],
            "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": [
                    "Kir6.2",
                    "BIR"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6257",
                "gene_name": "potassium voltage-gated channel subfamily J member 11",
                "omim_gene": [
                    "600937"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ11",
                "hgnc_symbol": "KCNJ11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:17407406-17410878",
                            "ensembl_id": "ENSG00000187486"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:17385859-17389331",
                            "ensembl_id": "ENSG00000187486"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-09-12"
            },
            "entity_type": "gene",
            "entity_name": "KCNJ11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diabetes mellitus, transient neonatal, 3 610582",
                "Diabetes, permanent neonatal, with or without neurologic features 606176",
                "Hyperinsulinemic hypoglycemia, familial, 2 601820"
            ],
            "mode_of_inheritance": "BOTH monoallelic and 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": [
                    "Kir2.1",
                    "IRK1",
                    "LQT7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6263",
                "gene_name": "potassium voltage-gated channel subfamily J member 2",
                "omim_gene": [
                    "600681"
                ],
                "alias_name": null,
                "gene_symbol": "KCNJ2",
                "hgnc_symbol": "KCNJ2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:68164814-68176189",
                            "ensembl_id": "ENSG00000123700"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:70168673-70180048",
                            "ensembl_id": "ENSG00000123700"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-02-08"
            },
            "entity_type": "gene",
            "entity_name": "KCNJ2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Andersen syndrome MIM#170390"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "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": [
                    "Kv7.1",
                    "KCNA8",
                    "KVLQT1",
                    "JLNS1",
                    "LQT1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6294",
                "gene_name": "potassium voltage-gated channel subfamily Q member 1",
                "omim_gene": [
                    "607542"
                ],
                "alias_name": [
                    "Jervell and Lange-Nielsen syndrome 1"
                ],
                "gene_symbol": "KCNQ1",
                "hgnc_symbol": "KCNQ1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:2465914-2870339",
                            "ensembl_id": "ENSG00000053918"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:2444684-2849109",
                            "ensembl_id": "ENSG00000053918"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-02-05"
            },
            "entity_type": "gene",
            "entity_name": "KCNQ1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BabySeq Category B gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Jervell and Lange-Nielsen syndrome MIM#220400",
                "Long QT syndrome 1, MIM# 192500"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [
                "cardiac",
                "treatable",
                "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": [
                    "Kv7.2",
                    "ENB1",
                    "BFNC",
                    "KCNA11",
                    "HNSPC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6296",
                "gene_name": "potassium voltage-gated channel subfamily Q member 2",
                "omim_gene": [
                    "602235"
                ],
                "alias_name": null,
                "gene_symbol": "KCNQ2",
                "hgnc_symbol": "KCNQ2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:62037542-62103993",
                            "ensembl_id": "ENSG00000075043"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:63400210-63472677",
                            "ensembl_id": "ENSG00000075043"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-01-12"
            },
            "entity_type": "gene",
            "entity_name": "KCNQ2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "BabySeq Category C gene",
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Seizures, benign neonatal, 1, MIM#\t121200",
                "Epilepsy, benign neonatal",
                "Developmental and epileptic encephalopathy 7, MIM#\t613720"
            ],
            "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": [
                    "Kv7.4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6298",
                "gene_name": "potassium voltage-gated channel subfamily Q member 4",
                "omim_gene": [
                    "603537"
                ],
                "alias_name": null,
                "gene_symbol": "KCNQ4",
                "hgnc_symbol": "KCNQ4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:41249684-41306124",
                            "ensembl_id": "ENSG00000117013"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:40784012-40840452",
                            "ensembl_id": "ENSG00000117013"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-02-05"
            },
            "entity_type": "gene",
            "entity_name": "KCNQ4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Deafness, autosomal dominant 2A, MIM# 600101"
            ],
            "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": [
                    "KCa4.1",
                    "KIAA1422",
                    "SLACK",
                    "Slo2.2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18865",
                "gene_name": "potassium sodium-activated channel subfamily T member 1",
                "omim_gene": [
                    "608167"
                ],
                "alias_name": [
                    "Sequence like a calcium-activated K+ channel"
                ],
                "gene_symbol": "KCNT1",
                "hgnc_symbol": "KCNT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:138594031-138684992",
                            "ensembl_id": "ENSG00000107147"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:135702185-135795508",
                            "ensembl_id": "ENSG00000107147"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-07-10"
            },
            "entity_type": "gene",
            "entity_name": "KCNT1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Developmental and epileptic encephalopathy 14, MIM#\t614959"
            ],
            "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": [
                    "FLJ32069",
                    "EPM3",
                    "CLN14"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21957",
                "gene_name": "potassium channel tetramerization domain containing 7",
                "omim_gene": [
                    "611725"
                ],
                "alias_name": null,
                "gene_symbol": "KCTD7",
                "hgnc_symbol": "KCTD7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:66093868-66276446",
                            "ensembl_id": "ENSG00000243335"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:66628767-66649067",
                            "ensembl_id": "ENSG00000243335"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-10-28"
            },
            "entity_type": "gene",
            "entity_name": "KCTD7",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)"
            ],
            "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:12637",
                "gene_name": "lysine demethylase 6A",
                "omim_gene": [
                    "300128"
                ],
                "alias_name": null,
                "gene_symbol": "KDM6A",
                "hgnc_symbol": "KDM6A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:44732757-44971847",
                            "ensembl_id": "ENSG00000147050"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:44873177-45112602",
                            "ensembl_id": "ENSG00000147050"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-04-17"
            },
            "entity_type": "gene",
            "entity_name": "KDM6A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Kabuki syndrome 2, MIM#300867"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [],
            "panel": {
                "id": 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": [
                    "FLJ20052"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19349",
                "gene_name": "kinesin family member 21A",
                "omim_gene": [
                    "608283"
                ],
                "alias_name": null,
                "gene_symbol": "KIF21A",
                "hgnc_symbol": "KIF21A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:39687030-39837192",
                            "ensembl_id": "ENSG00000139116"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:39293228-39443390",
                            "ensembl_id": "ENSG00000139116"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-10-08"
            },
            "entity_type": "gene",
            "entity_name": "KIF21A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700"
            ],
            "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": [
                    "CD117",
                    "SCFR",
                    "C-Kit"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6342",
                "gene_name": "KIT proto-oncogene receptor tyrosine kinase",
                "omim_gene": [
                    "164920"
                ],
                "alias_name": null,
                "gene_symbol": "KIT",
                "hgnc_symbol": "KIT",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:55524085-55606881",
                            "ensembl_id": "ENSG00000157404"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:54657918-54740715",
                            "ensembl_id": "ENSG00000157404"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "KIT",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764"
            ],
            "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": [
                    "EKLF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6345",
                "gene_name": "Kruppel like factor 1",
                "omim_gene": [
                    "600599"
                ],
                "alias_name": [
                    "erythroid Kruppel-like factor"
                ],
                "gene_symbol": "KLF1",
                "hgnc_symbol": "KLF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:12995237-12997995",
                            "ensembl_id": "ENSG00000105610"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:12884423-12887181",
                            "ensembl_id": "ENSG00000105610"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-12-14"
            },
            "entity_type": "gene",
            "entity_name": "KLF1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "33339573",
                "32815883",
                "32032242",
                "21055716",
                "32221653",
                "31818881"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Dyserythropoietic anaemia, congenital, type IV, MIM# 613673"
            ],
            "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": [
                    "SRYP",
                    "NEM8"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:30372",
                "gene_name": "kelch like family member 40",
                "omim_gene": [
                    "615340"
                ],
                "alias_name": [
                    "sarcosynapsin",
                    "nemaline myopathy type 8"
                ],
                "gene_symbol": "KLHL40",
                "hgnc_symbol": "KLHL40",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:42727011-42734036",
                            "ensembl_id": "ENSG00000157119"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:42685519-42692544",
                            "ensembl_id": "ENSG00000157119"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-01-08"
            },
            "entity_type": "gene",
            "entity_name": "KLHL40",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Nemaline myopathy 8, autosomal recessive, MIM# 615348"
            ],
            "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": [
                    "SARCOSIN",
                    "Krp1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16905",
                "gene_name": "kelch like family member 41",
                "omim_gene": [
                    "607701"
                ],
                "alias_name": [
                    "sarcomeric muscle protein"
                ],
                "gene_symbol": "KLHL41",
                "hgnc_symbol": "KLHL41",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:170366212-170382772",
                            "ensembl_id": "ENSG00000239474"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:169509702-169526262",
                            "ensembl_id": "ENSG00000239474"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-01-08"
            },
            "entity_type": "gene",
            "entity_name": "KLHL41",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Nemaline myopathy 9, MIM# 615731"
            ],
            "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": [
                    "ALR",
                    "MLL4",
                    "CAGL114"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7133",
                "gene_name": "lysine methyltransferase 2D",
                "omim_gene": [
                    "602113"
                ],
                "alias_name": null,
                "gene_symbol": "KMT2D",
                "hgnc_symbol": "KMT2D",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:49412758-49453557",
                            "ensembl_id": "ENSG00000167548"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:49018975-49059774",
                            "ensembl_id": "ENSG00000167548"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2013-05-09"
            },
            "entity_type": "gene",
            "entity_name": "KMT2D",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Kabuki syndrome 1, MIM# 147920"
            ],
            "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": [
                    "KRAS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6407",
                "gene_name": "KRAS proto-oncogene, GTPase",
                "omim_gene": [
                    "190070"
                ],
                "alias_name": null,
                "gene_symbol": "KRAS",
                "hgnc_symbol": "KRAS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:25357723-25403870",
                            "ensembl_id": "ENSG00000133703"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:25204789-25250936",
                            "ensembl_id": "ENSG00000133703"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-24"
            },
            "entity_type": "gene",
            "entity_name": "KRAS",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Cardiofaciocutaneous syndrome 2, MIM# 615278",
                "Noonan syndrome 3, MIM# 609942"
            ],
            "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:6416",
                "gene_name": "keratin 14",
                "omim_gene": [
                    "148066"
                ],
                "alias_name": [
                    "epidermolysis bullosa simplex, Dowling-Meara, Koebner"
                ],
                "gene_symbol": "KRT14",
                "hgnc_symbol": "KRT14",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:39738531-39743173",
                            "ensembl_id": "ENSG00000186847"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:41582279-41586921",
                            "ensembl_id": "ENSG00000186847"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-04-09"
            },
            "entity_type": "gene",
            "entity_name": "KRT14",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Epidermolysis bullosa simplex, recessive 1, 601001",
                "Dermatopathia pigmentosa reticularis, 125595",
                "Epidermolysis bullosa simplex, Dowling-Meara type, 131760",
                "Epidermolysis bullosa simplex, Koebner type, 131900",
                "Epidermolysis bullosa simplex, Weber-Cockayne type, 131800",
                "Naegeli-Franceschetti-Jadassohn syndrome, 161000"
            ],
            "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": [
                    "NEPPK"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6423",
                "gene_name": "keratin 16",
                "omim_gene": [
                    "148067"
                ],
                "alias_name": [
                    "focal non-epidermolytic palmoplantar keratoderma"
                ],
                "gene_symbol": "KRT16",
                "hgnc_symbol": "KRT16",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:39766030-39772151",
                            "ensembl_id": "ENSG00000186832"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:41609778-41615899",
                            "ensembl_id": "ENSG00000186832"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-14"
            },
            "entity_type": "gene",
            "entity_name": "KRT16",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200)"
            ],
            "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:6427",
                "gene_name": "keratin 17",
                "omim_gene": [
                    "148069"
                ],
                "alias_name": null,
                "gene_symbol": "KRT17",
                "hgnc_symbol": "KRT17",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:39775689-39781094",
                            "ensembl_id": "ENSG00000128422"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:41619437-41624842",
                            "ensembl_id": "ENSG00000128422"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-10-18"
            },
            "entity_type": "gene",
            "entity_name": "KRT17",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500"
            ],
            "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": [
                    "KRT5A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6442",
                "gene_name": "keratin 5",
                "omim_gene": [
                    "148040"
                ],
                "alias_name": null,
                "gene_symbol": "KRT5",
                "hgnc_symbol": "KRT5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:52908359-52914471",
                            "ensembl_id": "ENSG00000186081"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:52514575-52520687",
                            "ensembl_id": "ENSG00000186081"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-12"
            },
            "entity_type": "gene",
            "entity_name": "KRT5",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Dowling-Degos disease 1, MIM# 179850",
                "Epidermolysis bullosa simplex-MCR, MIM# 609352",
                "Epidermolysis bullosa simplex-MP 131960",
                "Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760",
                "Epidermolysis bullosa simplex, Koebner type, MIM# 131900",
                "Epidermolysis bullosa simplex, recessive 1, MIM# 601001",
                "Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800"
            ],
            "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": [
                    "CK6C",
                    "K6C",
                    "CK6D",
                    "K6D"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6443",
                "gene_name": "keratin 6A",
                "omim_gene": [
                    "148041"
                ],
                "alias_name": null,
                "gene_symbol": "KRT6A",
                "hgnc_symbol": "KRT6A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:52880958-52887041",
                            "ensembl_id": "ENSG00000205420"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:52487174-52493257",
                            "ensembl_id": "ENSG00000205420"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-09-12"
            },
            "entity_type": "gene",
            "entity_name": "KRT6A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Pachyonychia congenita 3 (MIM#615726)"
            ],
            "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": [
                    "CD171"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6470",
                "gene_name": "L1 cell adhesion molecule",
                "omim_gene": [
                    "308840"
                ],
                "alias_name": [
                    "neural cell adhesion molecule L1"
                ],
                "gene_symbol": "L1CAM",
                "hgnc_symbol": "L1CAM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:153126969-153174677",
                            "ensembl_id": "ENSG00000198910"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:153861514-153909223",
                            "ensembl_id": "ENSG00000198910"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "L1CAM",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hydrocephalus due to aqueductal stenosis, MIM# 307000"
            ],
            "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6482",
                "gene_name": "laminin subunit alpha 2",
                "omim_gene": [
                    "156225"
                ],
                "alias_name": [
                    "merosin",
                    "congenital muscular dystrophy"
                ],
                "gene_symbol": "LAMA2",
                "hgnc_symbol": "LAMA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:129204342-129837714",
                            "ensembl_id": "ENSG00000196569"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:128883141-129516569",
                            "ensembl_id": "ENSG00000196569"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-05-06"
            },
            "entity_type": "gene",
            "entity_name": "LAMA2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "pharmacogenomic"
            ],
            "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": [
                    "nicein-150kDa",
                    "kalinin-165kDa",
                    "BM600-150kDa",
                    "epiligrin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6483",
                "gene_name": "laminin subunit alpha 3",
                "omim_gene": [
                    "600805"
                ],
                "alias_name": null,
                "gene_symbol": "LAMA3",
                "hgnc_symbol": "LAMA3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:21269407-21535030",
                            "ensembl_id": "ENSG00000053747"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:23689443-23955066",
                            "ensembl_id": "ENSG00000053747"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-14"
            },
            "entity_type": "gene",
            "entity_name": "LAMA3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Epidermolysis bullosa, junctional 2B, severe, MIM# 619784"
            ],
            "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": [
                    "NPHS5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6487",
                "gene_name": "laminin subunit beta 2",
                "omim_gene": [
                    "150325"
                ],
                "alias_name": [
                    "laminin S"
                ],
                "gene_symbol": "LAMB2",
                "hgnc_symbol": "LAMB2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:49158547-49170551",
                            "ensembl_id": "ENSG00000172037"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:49121114-49133118",
                            "ensembl_id": "ENSG00000172037"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-05-06"
            },
            "entity_type": "gene",
            "entity_name": "LAMB2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199",
                "Pierson syndrome, MIM# 609049"
            ],
            "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": [
                    "nicein-125kDa",
                    "kalinin-140kDa",
                    "BM600-125kDa"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6490",
                "gene_name": "laminin subunit beta 3",
                "omim_gene": [
                    "150310"
                ],
                "alias_name": null,
                "gene_symbol": "LAMB3",
                "hgnc_symbol": "LAMB3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:209788215-209825811",
                            "ensembl_id": "ENSG00000196878"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:209614870-209652466",
                            "ensembl_id": "ENSG00000196878"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-14"
            },
            "entity_type": "gene",
            "entity_name": "LAMB3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Amelogenesis imperfecta, type IA, MIM# 104530",
                "Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700",
                "Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650"
            ],
            "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": [
                    "nicein-100kDa",
                    "kalinin-105kDa",
                    "BM600-100kDa"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6493",
                "gene_name": "laminin subunit gamma 2",
                "omim_gene": [
                    "150292"
                ],
                "alias_name": null,
                "gene_symbol": "LAMC2",
                "hgnc_symbol": "LAMC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:183155373-183214035",
                            "ensembl_id": "ENSG00000058085"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:183186238-183244900",
                            "ensembl_id": "ENSG00000058085"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-07-13"
            },
            "entity_type": "gene",
            "entity_name": "LAMC2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Epidermolysis bullosa, junctional 3B, severe, MIM# 619786"
            ],
            "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": [
                    "CD107b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6501",
                "gene_name": "lysosomal associated membrane protein 2",
                "omim_gene": [
                    "309060"
                ],
                "alias_name": null,
                "gene_symbol": "LAMP2",
                "hgnc_symbol": "LAMP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:119561682-119603220",
                            "ensembl_id": "ENSG00000005893"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:120427827-120469365",
                            "ensembl_id": "ENSG00000005893"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-08-03"
            },
            "entity_type": "gene",
            "entity_name": "LAMP2",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Danon disease, MIM# 300257"
            ],
            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "tags": [
                "cardiac"
            ],
            "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": [
                    "MAPBPIP",
                    "MAPKSP1AP",
                    "p14",
                    "ENDAP",
                    "Ragulator2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29796",
                "gene_name": "late endosomal/lysosomal adaptor, MAPK and MTOR activator 2",
                "omim_gene": [
                    "610389"
                ],
                "alias_name": [
                    "mitogen activated protein binding protein interacting protein",
                    "MAPKSP1 adaptor protein",
                    "endosomal adaptor protein"
                ],
                "gene_symbol": "LAMTOR2",
                "hgnc_symbol": "LAMTOR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:156024543-156028301",
                            "ensembl_id": "ENSG00000116586"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:156054752-156058510",
                            "ensembl_id": "ENSG00000116586"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2011-02-15"
            },
            "entity_type": "gene",
            "entity_name": "LAMTOR2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17195838"
            ],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Immunodeficiency due to defect in MAPBP-interacting protein, MIM#\t610798"
            ],
            "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": [
                    "KIAA0609"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6511",
                "gene_name": "LARGE xylosyl- and glucuronyltransferase 1",
                "omim_gene": [
                    "603590"
                ],
                "alias_name": [
                    "like-acetylglucosaminyltransferase"
                ],
                "gene_symbol": "LARGE1",
                "hgnc_symbol": "LARGE1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:33558212-34318829",
                            "ensembl_id": "ENSG00000133424"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:33162226-33922841",
                            "ensembl_id": "ENSG00000133424"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-05-31"
            },
            "entity_type": "gene",
            "entity_name": "LARGE1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154",
                "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840"
            ],
            "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": [
                    "KIAA0028",
                    "LEURS",
                    "MGC26121",
                    "mtLeuRS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17095",
                "gene_name": "leucyl-tRNA synthetase 2, mitochondrial",
                "omim_gene": [
                    "604544"
                ],
                "alias_name": [
                    "leucine tRNA ligase 2, mitochondrial"
                ],
                "gene_symbol": "LARS2",
                "hgnc_symbol": "LARS2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:45429998-45590913",
                            "ensembl_id": "ENSG00000011376"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:45388506-45549421",
                            "ensembl_id": "ENSG00000011376"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-09-01"
            },
            "entity_type": "gene",
            "entity_name": "LARS2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021",
                "Perrault syndrome 4, MIM#\t615300"
            ],
            "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": [
                    "LDLCQ2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6547",
                "gene_name": "low density lipoprotein receptor",
                "omim_gene": [
                    "606945"
                ],
                "alias_name": [
                    "familial hypercholesterolemia"
                ],
                "gene_symbol": "LDLR",
                "hgnc_symbol": "LDLR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:11200038-11244492",
                            "ensembl_id": "ENSG00000130164"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:11089362-11133816",
                            "ensembl_id": "ENSG00000130164"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "LDLR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Hypercholesterolemia, familial, 1, MIM# 143890"
            ],
            "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": [
                    "OBR",
                    "CD295"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6554",
                "gene_name": "leptin receptor",
                "omim_gene": [
                    "601007"
                ],
                "alias_name": null,
                "gene_symbol": "LEPR",
                "hgnc_symbol": "LEPR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:65886248-66107242",
                            "ensembl_id": "ENSG00000116678"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:65420652-65641559",
                            "ensembl_id": "ENSG00000116678"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-05-09"
            },
            "entity_type": "gene",
            "entity_name": "LEPR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "33137293"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Obesity, morbid, due to leptin receptor deficiency (MIM#614963)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "clinical trial",
                "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": [
                    "MGC33835",
                    "dJ510O8.8",
                    "Tmhs"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21253",
                "gene_name": "LHFPL tetraspan subfamily member 5",
                "omim_gene": [
                    "609427"
                ],
                "alias_name": [
                    "tetraspan membrane protein of hair cell stereocilia"
                ],
                "gene_symbol": "LHFPL5",
                "hgnc_symbol": "LHFPL5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:35773070-35801651",
                            "ensembl_id": "ENSG00000197753"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:35805293-35833874",
                            "ensembl_id": "ENSG00000197753"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-11-26"
            },
            "entity_type": "gene",
            "entity_name": "LHFPL5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Deafness, autosomal recessive 67, MIM# 610265"
            ],
            "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6595",
                "gene_name": "LIM homeobox 3",
                "omim_gene": [
                    "600577"
                ],
                "alias_name": null,
                "gene_symbol": "LHX3",
                "hgnc_symbol": "LHX3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:139088096-139096955",
                            "ensembl_id": "ENSG00000107187"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:136196250-136205109",
                            "ensembl_id": "ENSG00000107187"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-03-22"
            },
            "entity_type": "gene",
            "entity_name": "LHX3",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Pituitary hormone deficiency, combined, MIM#221750"
            ],
            "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": [
                    "Gsh4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21734",
                "gene_name": "LIM homeobox 4",
                "omim_gene": [
                    "602146"
                ],
                "alias_name": null,
                "gene_symbol": "LHX4",
                "hgnc_symbol": "LHX4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:180199421-180249380",
                            "ensembl_id": "ENSG00000121454"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:180230286-180278982",
                            "ensembl_id": "ENSG00000121454"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-07-21"
            },
            "entity_type": "gene",
            "entity_name": "LHX4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Pituitary hormone deficiency, combined, 4, MIM#\t262700"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "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": [
                    "CD118"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6597",
                "gene_name": "LIF receptor alpha",
                "omim_gene": [
                    "151443"
                ],
                "alias_name": null,
                "gene_symbol": "LIFR",
                "hgnc_symbol": "LIFR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:38475065-38608456",
                            "ensembl_id": "ENSG00000113594"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:38474963-38608354",
                            "ensembl_id": "ENSG00000113594"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-08-24"
            },
            "entity_type": "gene",
            "entity_name": "LIFR",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559"
            ],
            "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:6601",
                "gene_name": "DNA ligase 4",
                "omim_gene": [
                    "601837"
                ],
                "alias_name": [
                    "polydeoxyribonucleotide synthase [ATP] 4",
                    "polynucleotide ligase",
                    "sealase",
                    "DNA repair enzyme",
                    "DNA joinase"
                ],
                "gene_symbol": "LIG4",
                "hgnc_symbol": "LIG4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:108859787-108870716",
                            "ensembl_id": "ENSG00000174405"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:108207439-108218368",
                            "ensembl_id": "ENSG00000174405"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-08-10"
            },
            "entity_type": "gene",
            "entity_name": "LIG4",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16088910",
                "9823897",
                "10911993",
                "15333585",
                "9809069",
                "12023982",
                "11040211",
                "15175260",
                "19451691",
                "17554302",
                "11779494"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "LIG4 syndrome, MIM# 606593"
            ],
            "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": [
                    "LAL",
                    "CESD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6617",
                "gene_name": "lipase A, lysosomal acid type",
                "omim_gene": [
                    "613497"
                ],
                "alias_name": [
                    "Wolman disease",
                    "lysosomal acid lipase",
                    "sterol esterase"
                ],
                "gene_symbol": "LIPA",
                "hgnc_symbol": "LIPA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:90973326-91174314",
                            "ensembl_id": "ENSG00000107798"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:89213569-89414557",
                            "ensembl_id": "ENSG00000107798"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "LIPA",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Wolman syndrome, MIM#278000"
            ],
            "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": [
                    "PIG7",
                    "SIMPLE",
                    "FLJ38636",
                    "TP53I7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16841",
                "gene_name": "lipopolysaccharide induced TNF factor",
                "omim_gene": [
                    "603795"
                ],
                "alias_name": null,
                "gene_symbol": "LITAF",
                "hgnc_symbol": "LITAF",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:11641853-11730237",
                            "ensembl_id": "ENSG00000189067"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:11547722-11636381",
                            "ensembl_id": "ENSG00000189067"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-03-14"
            },
            "entity_type": "gene",
            "entity_name": "LITAF",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Charcot-Marie-Tooth disease, type 1C, MIM# 601098"
            ],
            "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": [
                    "FLJ11240",
                    "bA810I22.1",
                    "cblF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23038",
                "gene_name": "LMBR1 domain containing 1",
                "omim_gene": [
                    "612625"
                ],
                "alias_name": null,
                "gene_symbol": "LMBRD1",
                "hgnc_symbol": "LMBRD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:70385694-70507003",
                            "ensembl_id": "ENSG00000168216"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:69675802-69797111",
                            "ensembl_id": "ENSG00000168216"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-07-25"
            },
            "entity_type": "gene",
            "entity_name": "LMBRD1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Methylmalonic aciduria and homocystinuria, MIM#277380"
            ],
            "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:6649",
                "gene_name": "leiomodin 3",
                "omim_gene": [
                    "616112"
                ],
                "alias_name": null,
                "gene_symbol": "LMOD3",
                "hgnc_symbol": "LMOD3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:69156023-69172183",
                            "ensembl_id": "ENSG00000163380"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:69106872-69123032",
                            "ensembl_id": "ENSG00000163380"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-07-31"
            },
            "entity_type": "gene",
            "entity_name": "LMOD3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Nemaline myopathy 10, MIM# 616165"
            ],
            "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:6654",
                "gene_name": "LIM homeobox transcription factor 1 beta",
                "omim_gene": [
                    "602575"
                ],
                "alias_name": null,
                "gene_symbol": "LMX1B",
                "hgnc_symbol": "LMX1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:129376722-129463311",
                            "ensembl_id": "ENSG00000136944"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:126614443-126701032",
                            "ensembl_id": "ENSG00000136944"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-02-11"
            },
            "entity_type": "gene",
            "entity_name": "LMX1B",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Nail-patella syndrome, MIM# 161200, MONDO:0008061"
            ],
            "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": [
                    "FLJ32670",
                    "LH2D1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:26521",
                "gene_name": "lipoxygenase homology domains 1",
                "omim_gene": [
                    "613072"
                ],
                "alias_name": null,
                "gene_symbol": "LOXHD1",
                "hgnc_symbol": "LOXHD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:44056935-44236996",
                            "ensembl_id": "ENSG00000167210"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:46476972-46657033",
                            "ensembl_id": "ENSG00000167210"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-04-30"
            },
            "entity_type": "gene",
            "entity_name": "LOXHD1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Deafness, autosomal recessive 77, MIM# 613079"
            ],
            "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": [
                    "gp330",
                    "DBS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6694",
                "gene_name": "LDL receptor related protein 2",
                "omim_gene": [
                    "600073"
                ],
                "alias_name": [
                    "megalin"
                ],
                "gene_symbol": "LRP2",
                "hgnc_symbol": "LRP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:169983619-170219195",
                            "ensembl_id": "ENSG00000081479"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:169127109-169362685",
                            "ensembl_id": "ENSG00000081479"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-05-04"
            },
            "entity_type": "gene",
            "entity_name": "LRP2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Donnai-Barrow syndrome, MIM#222448"
            ],
            "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": [
                    "MEGF7",
                    "CLSS",
                    "LRP-4",
                    "SOST2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6696",
                "gene_name": "LDL receptor related protein 4",
                "omim_gene": [
                    "604270"
                ],
                "alias_name": null,
                "gene_symbol": "LRP4",
                "hgnc_symbol": "LRP4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:46878419-46940193",
                            "ensembl_id": "ENSG00000134569"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:46856868-46918642",
                            "ensembl_id": "ENSG00000134569"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-03-25"
            },
            "entity_type": "gene",
            "entity_name": "LRP4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Myasthenic syndrome, congenital, 17 , MIM#616304"
            ],
            "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": [
                    "LR3",
                    "BMND1",
                    "HBM",
                    "OPS",
                    "OPTA1",
                    "VBCH2",
                    "EVR4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6697",
                "gene_name": "LDL receptor related protein 5",
                "omim_gene": [
                    "603506"
                ],
                "alias_name": null,
                "gene_symbol": "LRP5",
                "hgnc_symbol": "LRP5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:68080077-68216743",
                            "ensembl_id": "ENSG00000162337"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:68312609-68449275",
                            "ensembl_id": "ENSG00000162337"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-04-07"
            },
            "entity_type": "gene",
            "entity_name": "LRP5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Osteoporosis-pseudoglioma syndrome, MIM# 259770"
            ],
            "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": [
                    "GP130",
                    "LRP130"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15714",
                "gene_name": "leucine rich pentatricopeptide repeat containing",
                "omim_gene": [
                    "607544"
                ],
                "alias_name": null,
                "gene_symbol": "LRPPRC",
                "hgnc_symbol": "LRPPRC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:44113647-44223144",
                            "ensembl_id": "ENSG00000138095"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:43886508-43996005",
                            "ensembl_id": "ENSG00000138095"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-04"
            },
            "entity_type": "gene",
            "entity_name": "LRPPRC",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111"
            ],
            "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
        }
    ]
}