Gene Search List

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    "count": 35518,
    "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=325",
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    "results": [
        {
            "gene_data": {
                "alias": [
                    "KIAA1620"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13797",
                "gene_name": "periaxin",
                "omim_gene": [
                    "605725"
                ],
                "alias_name": null,
                "gene_symbol": "PRX",
                "hgnc_symbol": "PRX",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:40899675-40919273",
                            "ensembl_id": "ENSG00000105227"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:40393768-40413366",
                            "ensembl_id": "ENSG00000105227"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-02-15"
            },
            "entity_type": "gene",
            "entity_name": "PRX",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Charcot-Marie-Tooth disease, type 4F, MIM# 614895",
                "Dejerine-Sottas disease, MIM# 145900"
            ],
            "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:9498",
                "gene_name": "prosaposin",
                "omim_gene": [
                    "176801"
                ],
                "alias_name": [
                    "variant Gaucher disease and variant metachromatic leukodystrophy"
                ],
                "gene_symbol": "PSAP",
                "hgnc_symbol": "PSAP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:73576055-73611126",
                            "ensembl_id": "ENSG00000197746"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:71816298-71851375",
                            "ensembl_id": "ENSG00000197746"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "PSAP",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Parkinson disease",
                "Combined SAP deficiency, MIM# 611721",
                "Encephalopathy due to prosaposin deficiency, MONDO:0012719",
                "Krabbe disease, atypical, MIM# 611722",
                "Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900",
                "Gaucher disease, atypical, MIM# 610539"
            ],
            "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": [
                    "PSA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19129",
                "gene_name": "phosphoserine aminotransferase 1",
                "omim_gene": [
                    "610936"
                ],
                "alias_name": null,
                "gene_symbol": "PSAT1",
                "hgnc_symbol": "PSAT1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:80912059-80945009",
                            "ensembl_id": "ENSG00000135069"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:78297143-78330093",
                            "ensembl_id": "ENSG00000135069"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-05-19"
            },
            "entity_type": "gene",
            "entity_name": "PSAT1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "BabySeq Category C gene",
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Phosphoserine aminotransferase deficiency , MIM#\t610992",
                "Phosphoserine aminotransferase deficiency"
            ],
            "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:9577",
                "gene_name": "phosphoserine phosphatase",
                "omim_gene": [
                    "172480"
                ],
                "alias_name": null,
                "gene_symbol": "PSPH",
                "hgnc_symbol": "PSPH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:56078744-56119297",
                            "ensembl_id": "ENSG00000146733"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:56011051-56051604",
                            "ensembl_id": "ENSG00000146733"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PSPH",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "16763900",
                "26589312",
                "29899766"
            ],
            "evidence": [
                "Expert Review Amber",
                "BeginNGS"
            ],
            "phenotypes": [
                "Phosphoserine phosphatase deficiency, MIM#\t614023"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "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": [
                    "BCNS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9585",
                "gene_name": "patched 1",
                "omim_gene": [
                    "601309"
                ],
                "alias_name": null,
                "gene_symbol": "PTCH1",
                "hgnc_symbol": "PTCH1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:98205262-98279339",
                            "ensembl_id": "ENSG00000185920"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:95442980-95517057",
                            "ensembl_id": "ENSG00000185920"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-09-26"
            },
            "entity_type": "gene",
            "entity_name": "PTCH1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Basal cell nevus syndrome, MIM# 109400"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "cancer"
            ],
            "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": [
                    "MMAC1",
                    "TEP1",
                    "PTEN1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9588",
                "gene_name": "phosphatase and tensin homolog",
                "omim_gene": [
                    "601728"
                ],
                "alias_name": [
                    "mutated in multiple advanced cancers 1"
                ],
                "gene_symbol": "PTEN",
                "hgnc_symbol": "PTEN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:89622870-89731687",
                            "ensembl_id": "ENSG00000171862"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:87863113-87971930",
                            "ensembl_id": "ENSG00000171862"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-04-21"
            },
            "entity_type": "gene",
            "entity_name": "PTEN",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Cowden syndrome 1, MIM# 158350",
                "Macrocephaly/autism syndrome, MIM# 605309"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "for review",
                "cancer"
            ],
            "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": [
                    "PTF1-p48",
                    "bHLHa29"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23734",
                "gene_name": "pancreas specific transcription factor, 1a",
                "omim_gene": [
                    "607194"
                ],
                "alias_name": null,
                "gene_symbol": "PTF1A",
                "hgnc_symbol": "PTF1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:23481256-23483181",
                            "ensembl_id": "ENSG00000168267"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:23192327-23194252",
                            "ensembl_id": "ENSG00000168267"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-12-04"
            },
            "entity_type": "gene",
            "entity_name": "PTF1A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Pancreatic and cerebellar agenesis, MIM#\t609069",
                "Pancreatic agenesis 2, MIM#\t615935"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "gastrointestinal"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9608",
                "gene_name": "parathyroid hormone 1 receptor",
                "omim_gene": [
                    "168468"
                ],
                "alias_name": null,
                "gene_symbol": "PTH1R",
                "hgnc_symbol": "PTH1R",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:46919236-46945287",
                            "ensembl_id": "ENSG00000160801"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:46877746-46903799",
                            "ensembl_id": "ENSG00000160801"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2008-11-18"
            },
            "entity_type": "gene",
            "entity_name": "PTH1R",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Failure of tooth eruption, primary MIM#125350",
                "Eiken syndrome MIM#600002",
                "Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400",
                "Chondrodysplasia, Blomstrand type MIM#215045"
            ],
            "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": [
                    "BPTP3",
                    "SH-PTP2",
                    "SHP-2",
                    "PTP2C",
                    "SHP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9644",
                "gene_name": "protein tyrosine phosphatase, non-receptor type 11",
                "omim_gene": [
                    "176876"
                ],
                "alias_name": null,
                "gene_symbol": "PTPN11",
                "hgnc_symbol": "PTPN11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:112856155-112947717",
                            "ensembl_id": "ENSG00000179295"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:112418351-112509913",
                            "ensembl_id": "ENSG00000179295"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "entity_type": "gene",
            "entity_name": "PTPN11",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Noonan syndrome 1, MIM# 163950"
            ],
            "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": [
                    "LCA",
                    "T200",
                    "GP180"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9666",
                "gene_name": "protein tyrosine phosphatase, receptor type C",
                "omim_gene": [
                    "151460"
                ],
                "alias_name": null,
                "gene_symbol": "PTPRC",
                "hgnc_symbol": "PTPRC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:198607801-198726545",
                            "ensembl_id": "ENSG00000081237"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:198638671-198757283",
                            "ensembl_id": "ENSG00000081237"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "PTPRC",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 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": [
                    "PTPS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9689",
                "gene_name": "6-pyruvoyltetrahydropterin synthase",
                "omim_gene": [
                    "612719"
                ],
                "alias_name": null,
                "gene_symbol": "PTS",
                "hgnc_symbol": "PTS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:112097088-112140678",
                            "ensembl_id": "ENSG00000150787"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:112226365-112269955",
                            "ensembl_id": "ENSG00000150787"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "entity_type": "gene",
            "entity_name": "PTS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Hyperphenylalaninemia, BH4-deficient, A, MIM#261640"
            ],
            "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:9725",
                "gene_name": "glycogen phosphorylase L",
                "omim_gene": [
                    "613741"
                ],
                "alias_name": [
                    "Hers disease",
                    "glycogen storage disease type VI",
                    "glycogen phosphorylase, liver form"
                ],
                "gene_symbol": "PYGL",
                "hgnc_symbol": "PYGL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:51324609-51411454",
                            "ensembl_id": "ENSG00000100504"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:50857891-50944736",
                            "ensembl_id": "ENSG00000100504"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PYGL",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Glycogen storage disease VI, MIM# 232700"
            ],
            "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:9726",
                "gene_name": "glycogen phosphorylase, muscle associated",
                "omim_gene": [
                    "608455"
                ],
                "alias_name": [
                    "McArdle syndrome",
                    "glycogen storage disease type V",
                    "glycogen phosphorylase, muscle form",
                    "myophosphorylase"
                ],
                "gene_symbol": "PYGM",
                "hgnc_symbol": "PYGM",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:64513861-64527769",
                            "ensembl_id": "ENSG00000068976"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:64746389-64760297",
                            "ensembl_id": "ENSG00000068976"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PYGM",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "Expert list"
            ],
            "phenotypes": [
                "McArdle disease, MIM# 232600",
                "Glycogen storage disease, autosomal dominant"
            ],
            "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": [
                    "DHPR",
                    "PKU2",
                    "SDR33C1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9752",
                "gene_name": "quinoid dihydropteridine reductase",
                "omim_gene": [
                    "612676"
                ],
                "alias_name": [
                    "6,7-dihydropteridine reductase",
                    "short chain dehydrogenase/reductase family 33C, member 1"
                ],
                "gene_symbol": "QDPR",
                "hgnc_symbol": "QDPR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:17461884-17513857",
                            "ensembl_id": "ENSG00000151552"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:17460261-17512234",
                            "ensembl_id": "ENSG00000151552"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "QDPR",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Dihydropteridine reductase deficiency, MIM#261630"
            ],
            "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:14263",
                "gene_name": "RAB23, member RAS oncogene family",
                "omim_gene": [
                    "606144"
                ],
                "alias_name": null,
                "gene_symbol": "RAB23",
                "hgnc_symbol": "RAB23",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:57053607-57087078",
                            "ensembl_id": "ENSG00000112210"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:57186992-57222314",
                            "ensembl_id": "ENSG00000112210"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-12-18"
            },
            "entity_type": "gene",
            "entity_name": "RAB23",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Carpenter syndrome (MIM#201000)"
            ],
            "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": [
                    "RAB27",
                    "RAM",
                    "GS2",
                    "HsT18676"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9766",
                "gene_name": "RAB27A, member RAS oncogene family",
                "omim_gene": [
                    "603868"
                ],
                "alias_name": null,
                "gene_symbol": "RAB27A",
                "hgnc_symbol": "RAB27A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:55495164-55611311",
                            "ensembl_id": "ENSG00000069974"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:55202966-55319113",
                            "ensembl_id": "ENSG00000069974"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-11-15"
            },
            "entity_type": "gene",
            "entity_name": "RAB27A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32374962",
                "32107531"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Griscelli syndrome, MIM#607624"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "for review",
                "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": [
                    "RAB3GAP",
                    "KIAA0066",
                    "RAB3GAP130",
                    "WARBM1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17063",
                "gene_name": "RAB3 GTPase activating protein catalytic subunit 1",
                "omim_gene": [
                    "602536"
                ],
                "alias_name": null,
                "gene_symbol": "RAB3GAP1",
                "hgnc_symbol": "RAB3GAP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:135809835-135933964",
                            "ensembl_id": "ENSG00000115839"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:135052265-135176394",
                            "ensembl_id": "ENSG00000115839"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-23"
            },
            "entity_type": "gene",
            "entity_name": "RAB3GAP1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420"
            ],
            "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": [
                    "RAB3-GAP150",
                    "KIAA0839",
                    "DKFZP434D245",
                    "SPG69"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17168",
                "gene_name": "RAB3 GTPase activating non-catalytic protein subunit 2",
                "omim_gene": [
                    "609275"
                ],
                "alias_name": null,
                "gene_symbol": "RAB3GAP2",
                "hgnc_symbol": "RAB3GAP2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:220321635-220445796",
                            "ensembl_id": "ENSG00000118873"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:220148293-220272454",
                            "ensembl_id": "ENSG00000118873"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-08-23"
            },
            "entity_type": "gene",
            "entity_name": "RAB3GAP2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20967465",
                "23420520"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Warburg micro syndrome 2, MIM# 614225"
            ],
            "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:9788",
                "gene_name": "RAB7A, member RAS oncogene family",
                "omim_gene": [
                    "602298"
                ],
                "alias_name": null,
                "gene_symbol": "RAB7A",
                "hgnc_symbol": "RAB7A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:128444965-128533639",
                            "ensembl_id": "ENSG00000075785"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:128726122-128814796",
                            "ensembl_id": "ENSG00000075785"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-01-15"
            },
            "entity_type": "gene",
            "entity_name": "RAB7A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Charcot-Marie-Tooth disease, type 2B, MIM# 600882"
            ],
            "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": [
                    "Raf-1",
                    "c-Raf",
                    "CRAF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9829",
                "gene_name": "Raf-1 proto-oncogene, serine/threonine kinase",
                "omim_gene": [
                    "164760"
                ],
                "alias_name": [
                    "C-Raf proto-oncogene, serine/threonine kinase"
                ],
                "gene_symbol": "RAF1",
                "hgnc_symbol": "RAF1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:12625100-12705725",
                            "ensembl_id": "ENSG00000132155"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:12583601-12664226",
                            "ensembl_id": "ENSG00000132155"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "RAF1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Noonan syndrome 5, MIM# 611553"
            ],
            "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": [
                    "RNF74",
                    "MGC43321"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9831",
                "gene_name": "recombination activating 1",
                "omim_gene": [
                    "179615"
                ],
                "alias_name": [
                    "recombination activating protein 1",
                    "RING finger protein 74",
                    "V(D)J recombination-activating protein 1"
                ],
                "gene_symbol": "RAG1",
                "hgnc_symbol": "RAG1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:36532259-36614706",
                            "ensembl_id": "ENSG00000166349"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:36510709-36593156",
                            "ensembl_id": "ENSG00000166349"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-06-18"
            },
            "entity_type": "gene",
            "entity_name": "RAG1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Recombinase activating gene 1 deficiency MONDO:0000572"
            ],
            "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": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9832",
                "gene_name": "recombination activating 2",
                "omim_gene": [
                    "179616"
                ],
                "alias_name": null,
                "gene_symbol": "RAG2",
                "hgnc_symbol": "RAG2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:36597124-36619829",
                            "ensembl_id": "ENSG00000175097"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:36575574-36598279",
                            "ensembl_id": "ENSG00000175097"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-08-15"
            },
            "entity_type": "gene",
            "entity_name": "RAG2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BEginNGS"
            ],
            "phenotypes": [
                "Recombinase activating gene 2 deficiency MONDO:0000573"
            ],
            "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": [
                    "DKFZP434A139",
                    "SMS",
                    "KIAA1820",
                    "MGC12824"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9834",
                "gene_name": "retinoic acid induced 1",
                "omim_gene": [
                    "607642"
                ],
                "alias_name": null,
                "gene_symbol": "RAI1",
                "hgnc_symbol": "RAI1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:17584787-17714767",
                            "ensembl_id": "ENSG00000108557"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:17681473-17811453",
                            "ensembl_id": "ENSG00000108557"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-04-16"
            },
            "entity_type": "gene",
            "entity_name": "RAI1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Smith-Magenis syndrome (MIM#182290)"
            ],
            "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": [
                    "RNF205",
                    "CMS1D",
                    "CMS1E"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9863",
                "gene_name": "receptor associated protein of the synapse",
                "omim_gene": [
                    "601592"
                ],
                "alias_name": [
                    "rapsyn"
                ],
                "gene_symbol": "RAPSN",
                "hgnc_symbol": "RAPSN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:47459308-47470730",
                            "ensembl_id": "ENSG00000165917"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:47437757-47449178",
                            "ensembl_id": "ENSG00000165917"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-03-12"
            },
            "entity_type": "gene",
            "entity_name": "RAPSN",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "neurological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GAP",
                    "CM-AVM",
                    "p120GAP",
                    "p120RASGAP",
                    "p120"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9871",
                "gene_name": "RAS p21 protein activator 1",
                "omim_gene": [
                    "139150"
                ],
                "alias_name": [
                    "capillary malformation-arteriovenous malformation",
                    "p120 RAS GTPase activating protein"
                ],
                "gene_symbol": "RASA1",
                "hgnc_symbol": "RASA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:86563705-86687748",
                            "ensembl_id": "ENSG00000145715"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:87267888-87391931",
                            "ensembl_id": "ENSG00000145715"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "RASA1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Capillary malformation-arteriovenous malformation 1, MIM#608354"
            ],
            "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": [
                    "RB",
                    "PPP1R130"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9884",
                "gene_name": "RB transcriptional corepressor 1",
                "omim_gene": [
                    "614041"
                ],
                "alias_name": [
                    "prepro-retinoblastoma-associated protein",
                    "protein phosphatase 1, regulatory subunit 130"
                ],
                "gene_symbol": "RB1",
                "hgnc_symbol": "RB1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:48877887-49056122",
                            "ensembl_id": "ENSG00000139687"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:48303751-48481986",
                            "ensembl_id": "ENSG00000139687"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "RB1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Retinoblastoma, MIM# 180200"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "cancer",
                "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": [
                    "ZNRP",
                    "BOV-1A",
                    "BOV-1B",
                    "BOV-1C",
                    "RBM8B",
                    "Y14"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:9905",
                "gene_name": "RNA binding motif protein 8A",
                "omim_gene": [
                    "605313"
                ],
                "alias_name": null,
                "gene_symbol": "RBM8A",
                "hgnc_symbol": "RBM8A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:145507598-145513536",
                            "ensembl_id": "ENSG00000131795"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:145917714-145927678",
                            "ensembl_id": "ENSG00000265241"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-05-05"
            },
            "entity_type": "gene",
            "entity_name": "RBM8A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Thrombocytopenia-absent radius syndrome, MIM# 274000"
            ],
            "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:9944",
                "gene_name": "radixin",
                "omim_gene": [
                    "179410"
                ],
                "alias_name": null,
                "gene_symbol": "RDX",
                "hgnc_symbol": "RDX",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:110045605-110167447",
                            "ensembl_id": "ENSG00000137710"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:110174880-110296722",
                            "ensembl_id": "ENSG00000137710"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-12-08"
            },
            "entity_type": "gene",
            "entity_name": "RDX",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19215054",
                "22567349",
                "15314067",
                "26226137",
                "17226784"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Deafness, autosomal recessive 24, MIM# 611022"
            ],
            "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": [
                    "RecQ4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9949",
                "gene_name": "RecQ like helicase 4",
                "omim_gene": [
                    "603780"
                ],
                "alias_name": null,
                "gene_symbol": "RECQL4",
                "hgnc_symbol": "RECQL4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:145736667-145743229",
                            "ensembl_id": "ENSG00000160957"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:144511288-144517845",
                            "ensembl_id": "ENSG00000160957"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2014-03-07"
            },
            "entity_type": "gene",
            "entity_name": "RECQL4",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Rothmund-Thomson syndrome, type 2, MIM# 268400"
            ],
            "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:9958",
                "gene_name": "renin",
                "omim_gene": [
                    "179820"
                ],
                "alias_name": null,
                "gene_symbol": "REN",
                "hgnc_symbol": "REN",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:204123944-204135465",
                            "ensembl_id": "ENSG00000143839"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:204154819-204190324",
                            "ensembl_id": "ENSG00000143839"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "REN",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Renal tubular dysgenesis, MIM# 267430"
            ],
            "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": [
                    "PTC",
                    "CDHF12",
                    "RET51",
                    "CDHR16"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9967",
                "gene_name": "ret proto-oncogene",
                "omim_gene": [
                    "164761"
                ],
                "alias_name": [
                    "cadherin-related family member 16",
                    "RET receptor tyrosine kinase",
                    "rearranged during transfection"
                ],
                "gene_symbol": "RET",
                "hgnc_symbol": "RET",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:43572475-43625799",
                            "ensembl_id": "ENSG00000165731"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:43077027-43130351",
                            "ensembl_id": "ENSG00000165731"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-07-15"
            },
            "entity_type": "gene",
            "entity_name": "RET",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Multiple endocrine neoplasia IIB",
                "Multiple endocrine neoplasia IIA"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "cancer",
                "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": [
                    "FLJ20152",
                    "JK1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25964",
                "gene_name": "reticulophagy regulator 1",
                "omim_gene": [
                    "613114"
                ],
                "alias_name": null,
                "gene_symbol": "RETREG1",
                "hgnc_symbol": "RETREG1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:16473147-16617167",
                            "ensembl_id": "ENSG00000154153"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:16473038-16617058",
                            "ensembl_id": "ENSG00000154153"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2017-03-16"
            },
            "entity_type": "gene",
            "entity_name": "RETREG1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "31737055",
                "31596031",
                "24327336",
                "19838196"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115"
            ],
            "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": [
                    "FLJ10520",
                    "RNF201",
                    "FANCW"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25539",
                "gene_name": "ring finger and WD repeat domain 3",
                "omim_gene": [
                    "614151"
                ],
                "alias_name": null,
                "gene_symbol": "RFWD3",
                "hgnc_symbol": "RFWD3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:74655292-74700779",
                            "ensembl_id": "ENSG00000168411"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:74621394-74666881",
                            "ensembl_id": "ENSG00000168411"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-01-13"
            },
            "entity_type": "gene",
            "entity_name": "RFWD3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Fanconi anaemia, complementation group W, MIM# \t617784"
            ],
            "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": [
                    "BLS",
                    "RFX-B",
                    "ANKRA1",
                    "F14150_1",
                    "MGC138628"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9987",
                "gene_name": "regulatory factor X associated ankyrin containing protein",
                "omim_gene": [
                    "603200"
                ],
                "alias_name": [
                    "ankyrin repeat-containing regulatory factor X-associated protein",
                    "regulatory factor X subunit B",
                    "RFX-Bdelta4",
                    "DNA-binding protein RFXANK"
                ],
                "gene_symbol": "RFXANK",
                "hgnc_symbol": "RFXANK",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:19303008-19312678",
                            "ensembl_id": "ENSG00000064490"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:19192229-19201869",
                            "ensembl_id": "ENSG00000064490"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-11-19"
            },
            "entity_type": "gene",
            "entity_name": "RFXANK",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "MHC class II deficiency, complementation group B\t, MIM#209920"
            ],
            "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": [
                    "RMRPR",
                    "RRP2",
                    "NME1"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:10031",
                "gene_name": "RNA component of mitochondrial RNA processing endoribonuclease",
                "omim_gene": [
                    "157660"
                ],
                "alias_name": null,
                "gene_symbol": "RMRP",
                "hgnc_symbol": "RMRP",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:35657748-35658015",
                            "ensembl_id": "ENSG00000269900"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:35657751-35658018",
                            "ensembl_id": "ENSG00000269900"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "RMRP",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Cartilage-hair hypoplasia MIM#250250"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "for review",
                "treatable",
                "immunological",
                "non-coding gene"
            ],
            "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": [
                    "RNASEHI",
                    "RNHIA",
                    "RNHL",
                    "AGS4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:18518",
                "gene_name": "ribonuclease H2 subunit A",
                "omim_gene": [
                    "606034"
                ],
                "alias_name": null,
                "gene_symbol": "RNASEH2A",
                "hgnc_symbol": "RNASEH2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:12917394-12924452",
                            "ensembl_id": "ENSG00000104889"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:12802063-12813638",
                            "ensembl_id": "ENSG00000104889"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-06-05"
            },
            "entity_type": "gene",
            "entity_name": "RNASEH2A",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Aicardi-Goutieres syndrome 4, MIM# 610333"
            ],
            "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": [
                    "FLJ11712"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25671",
                "gene_name": "ribonuclease H2 subunit B",
                "omim_gene": [
                    "610326"
                ],
                "alias_name": null,
                "gene_symbol": "RNASEH2B",
                "hgnc_symbol": "RNASEH2B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:51483814-51544592",
                            "ensembl_id": "ENSG00000136104"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:50909678-50973745",
                            "ensembl_id": "ENSG00000136104"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-17"
            },
            "entity_type": "gene",
            "entity_name": "RNASEH2B",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32877590"
            ],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Aicardi-Goutieres syndrome 2, MIM# 610181"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "for review",
                "neurological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "AYP1",
                    "AGS3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:24116",
                "gene_name": "ribonuclease H2 subunit C",
                "omim_gene": [
                    "610330"
                ],
                "alias_name": [
                    "Aicardi-Goutieres syndrome 3"
                ],
                "gene_symbol": "RNASEH2C",
                "hgnc_symbol": "RNASEH2C",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:65482367-65488418",
                            "ensembl_id": "ENSG00000172922"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:65714896-65720947",
                            "ensembl_id": "ENSG00000172922"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-08-17"
            },
            "entity_type": "gene",
            "entity_name": "RNASEH2C",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32877590"
            ],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Aicardi-Goutieres syndrome 3, MIM# 610329"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "for review",
                "neurological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10257",
                "gene_name": "receptor tyrosine kinase like orphan receptor 2",
                "omim_gene": [
                    "602337"
                ],
                "alias_name": null,
                "gene_symbol": "ROR2",
                "hgnc_symbol": "ROR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:94325373-94712444",
                            "ensembl_id": "ENSG00000169071"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:91563091-91950162",
                            "ensembl_id": "ENSG00000169071"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-02-29"
            },
            "entity_type": "gene",
            "entity_name": "ROR2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Robinow syndrome, autosomal recessive - MIM#268310"
            ],
            "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": [
                    "CORDX1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10295",
                "gene_name": "retinitis pigmentosa GTPase regulator",
                "omim_gene": [
                    "312610"
                ],
                "alias_name": null,
                "gene_symbol": "RPGR",
                "hgnc_symbol": "RPGR",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:38128416-38186817",
                            "ensembl_id": "ENSG00000156313"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:38269163-38327564",
                            "ensembl_id": "ENSG00000156313"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-04-29"
            },
            "entity_type": "gene",
            "entity_name": "RPGR",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455"
            ],
            "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": [
                    "KIAA1005",
                    "CORS3",
                    "JBTS7",
                    "MKS5",
                    "NPHP8",
                    "FTM",
                    "PPP1R134"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29168",
                "gene_name": "RPGRIP1 like",
                "omim_gene": [
                    "610937"
                ],
                "alias_name": [
                    "fantom homolog",
                    "Meckel syndrome, type 5",
                    "protein phosphatase 1, regulatory subunit 134"
                ],
                "gene_symbol": "RPGRIP1L",
                "hgnc_symbol": "RPGRIP1L",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:53631595-53737850",
                            "ensembl_id": "ENSG00000103494"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:53597683-53703938",
                            "ensembl_id": "ENSG00000103494"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-05-14"
            },
            "entity_type": "gene",
            "entity_name": "RPGRIP1L",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Joubert syndrome 7, MIM# 611560",
                "Meckel syndrome 5, MIM# 611561",
                "COACH syndrome 3, MIM# 619113",
                "Nephronophthisis"
            ],
            "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": [
                    "L11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10301",
                "gene_name": "ribosomal protein L11",
                "omim_gene": [
                    "604175"
                ],
                "alias_name": null,
                "gene_symbol": "RPL11",
                "hgnc_symbol": "RPL11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:24018269-24022915",
                            "ensembl_id": "ENSG00000142676"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:23691779-23696425",
                            "ensembl_id": "ENSG00000142676"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-23"
            },
            "entity_type": "gene",
            "entity_name": "RPL11",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia, MIM#612562"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RPL10",
                    "RPLY10",
                    "RPYL10",
                    "EC45",
                    "L15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10306",
                "gene_name": "ribosomal protein L15",
                "omim_gene": [
                    "604174"
                ],
                "alias_name": null,
                "gene_symbol": "RPL15",
                "hgnc_symbol": "RPL15",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:23958036-23965183",
                            "ensembl_id": "ENSG00000174748"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:23916545-23923692",
                            "ensembl_id": "ENSG00000174748"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-23"
            },
            "entity_type": "gene",
            "entity_name": "RPL15",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 12 , MIM#\t615550"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "L18"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10310",
                "gene_name": "ribosomal protein L18",
                "omim_gene": [
                    "604179"
                ],
                "alias_name": [
                    "60S ribosomal protein L18"
                ],
                "gene_symbol": "RPL18",
                "hgnc_symbol": "RPL18",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:49118585-49122793",
                            "ensembl_id": "ENSG00000063177"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:48615328-48619536",
                            "ensembl_id": "ENSG00000063177"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-01-04"
            },
            "entity_type": "gene",
            "entity_name": "RPL18",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 18 , MIM#\t618310"
            ],
            "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": [
                    "L26"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10327",
                "gene_name": "ribosomal protein L26",
                "omim_gene": [
                    "603704"
                ],
                "alias_name": null,
                "gene_symbol": "RPL26",
                "hgnc_symbol": "RPL26",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:8280838-8286531",
                            "ensembl_id": "ENSG00000161970"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:8377520-8383213",
                            "ensembl_id": "ENSG00000161970"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-06-15"
            },
            "entity_type": "gene",
            "entity_name": "RPL26",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 11 , MIM#\t614900"
            ],
            "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": [
                    "L27"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10328",
                "gene_name": "ribosomal protein L27",
                "omim_gene": [
                    "607526"
                ],
                "alias_name": [
                    "60S ribosomal protein L27"
                ],
                "gene_symbol": "RPL27",
                "hgnc_symbol": "RPL27",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:41150290-41154976",
                            "ensembl_id": "ENSG00000131469"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:42998273-43002959",
                            "ensembl_id": "ENSG00000131469"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-05-16"
            },
            "entity_type": "gene",
            "entity_name": "RPL27",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 16 , MIM#\t617408"
            ],
            "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": [
                    "L35"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10344",
                "gene_name": "ribosomal protein L35",
                "omim_gene": null,
                "alias_name": [
                    "60S ribosomal protein L35"
                ],
                "gene_symbol": "RPL35",
                "hgnc_symbol": "RPL35",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:127620159-127624260",
                            "ensembl_id": "ENSG00000136942"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:124857880-124861981",
                            "ensembl_id": "ENSG00000136942"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-09-16"
            },
            "entity_type": "gene",
            "entity_name": "RPL35",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 19 , MIM#\t618312"
            ],
            "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": [
                    "L35A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10345",
                "gene_name": "ribosomal protein L35a",
                "omim_gene": [
                    "180468"
                ],
                "alias_name": null,
                "gene_symbol": "RPL35A",
                "hgnc_symbol": "RPL35A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:197676858-197683481",
                            "ensembl_id": "ENSG00000182899"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:197949987-197956610",
                            "ensembl_id": "ENSG00000182899"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-11-29"
            },
            "entity_type": "gene",
            "entity_name": "RPL35A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "18535205",
                "32241839"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 5, MIM#\t612528"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "L5",
                    "PPP1R135"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10360",
                "gene_name": "ribosomal protein L5",
                "omim_gene": [
                    "603634"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 135"
                ],
                "gene_symbol": "RPL5",
                "hgnc_symbol": "RPL5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:93297582-93307481",
                            "ensembl_id": "ENSG00000122406"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:92832025-92841924",
                            "ensembl_id": "ENSG00000122406"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-09-08"
            },
            "entity_type": "gene",
            "entity_name": "RPL5",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia, MIM#612561"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC88819",
                    "S10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10383",
                "gene_name": "ribosomal protein S10",
                "omim_gene": [
                    "603632"
                ],
                "alias_name": null,
                "gene_symbol": "RPS10",
                "hgnc_symbol": "RPS10",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:34385231-34393902",
                            "ensembl_id": "ENSG00000124614"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:34417454-34426125",
                            "ensembl_id": "ENSG00000124614"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-07"
            },
            "entity_type": "gene",
            "entity_name": "RPS10",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 9, MIM#\t613308"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RIG",
                    "MGC111130",
                    "S15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10388",
                "gene_name": "ribosomal protein S15",
                "omim_gene": [
                    "180535"
                ],
                "alias_name": [
                    "40S ribosomal protein S15",
                    "homolog of rat insulinoma",
                    "insulinoma protein"
                ],
                "gene_symbol": "RPS15",
                "hgnc_symbol": "RPS15",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:1438358-1440583",
                            "ensembl_id": "ENSG00000115268"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:1438358-1440494",
                            "ensembl_id": "ENSG00000115268"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-04-16"
            },
            "entity_type": "gene",
            "entity_name": "RPS15",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19061985"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related"
            ],
            "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": [
                    "S15A"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10389",
                "gene_name": "ribosomal protein S15a",
                "omim_gene": [
                    "603674"
                ],
                "alias_name": null,
                "gene_symbol": "RPS15A",
                "hgnc_symbol": "RPS15A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:18792617-18801705",
                            "ensembl_id": "ENSG00000134419"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:18781295-18790383",
                            "ensembl_id": "ENSG00000134419"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-08-18"
            },
            "entity_type": "gene",
            "entity_name": "RPS15A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 20, MIM# \t618313"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "for review",
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RPS17L1",
                    "RPS17L2",
                    "MGC72007",
                    "S17"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10397",
                "gene_name": "ribosomal protein S17",
                "omim_gene": [
                    "180472"
                ],
                "alias_name": null,
                "gene_symbol": "RPS17",
                "hgnc_symbol": "RPS17",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "15:83205504-83209315",
                            "ensembl_id": "ENSG00000182774"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "15:82536753-82540564",
                            "ensembl_id": "ENSG00000182774"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1991-11-29"
            },
            "entity_type": "gene",
            "entity_name": "RPS17",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia, MIM#612527"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DBA",
                    "S19"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10402",
                "gene_name": "ribosomal protein S19",
                "omim_gene": [
                    "603474"
                ],
                "alias_name": [
                    "Diamond-Blackfan anemia"
                ],
                "gene_symbol": "RPS19",
                "hgnc_symbol": "RPS19",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:42363988-42376994",
                            "ensembl_id": "ENSG00000105372"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:41859918-41872926",
                            "ensembl_id": "ENSG00000105372"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-07-22"
            },
            "entity_type": "gene",
            "entity_name": "RPS19",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia, MIM#105650"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "S24"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10411",
                "gene_name": "ribosomal protein S24",
                "omim_gene": [
                    "602412"
                ],
                "alias_name": null,
                "gene_symbol": "RPS24",
                "hgnc_symbol": "RPS24",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:79793518-79816570",
                            "ensembl_id": "ENSG00000138326"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:78033760-78056812",
                            "ensembl_id": "ENSG00000138326"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-08-22"
            },
            "entity_type": "gene",
            "entity_name": "RPS24",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia, MIM#610629"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "S26"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10414",
                "gene_name": "ribosomal protein S26",
                "omim_gene": [
                    "603701"
                ],
                "alias_name": [
                    "40S ribosomal protein S26"
                ],
                "gene_symbol": "RPS26",
                "hgnc_symbol": "RPS26",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:56435637-56438116",
                            "ensembl_id": "ENSG00000197728"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:56041853-56044675",
                            "ensembl_id": "ENSG00000197728"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-01-19"
            },
            "entity_type": "gene",
            "entity_name": "RPS26",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia, MM#613309"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MPS-1",
                    "MPS1",
                    "S27"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10416",
                "gene_name": "ribosomal protein S27",
                "omim_gene": [
                    "603702"
                ],
                "alias_name": [
                    "metallopanstimulin 1"
                ],
                "gene_symbol": "RPS27",
                "hgnc_symbol": "RPS27",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:153963235-153964626",
                            "ensembl_id": "ENSG00000177954"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:153990759-153992150",
                            "ensembl_id": "ENSG00000177954"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-06-05"
            },
            "entity_type": "gene",
            "entity_name": "RPS27",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 17, MIM# \t617409"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "for review",
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "S28"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10418",
                "gene_name": "ribosomal protein S28",
                "omim_gene": [
                    "603685"
                ],
                "alias_name": [
                    "40S ribosomal protein S28"
                ],
                "gene_symbol": "RPS28",
                "hgnc_symbol": "RPS28",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:8386042-8388224",
                            "ensembl_id": "ENSG00000233927"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:8321158-8323340",
                            "ensembl_id": "ENSG00000233927"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-12-07"
            },
            "entity_type": "gene",
            "entity_name": "RPS28",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM#\t606164"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "for review",
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "S29"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10419",
                "gene_name": "ribosomal protein S29",
                "omim_gene": [
                    "603633"
                ],
                "alias_name": null,
                "gene_symbol": "RPS29",
                "hgnc_symbol": "RPS29",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:50043390-50065408",
                            "ensembl_id": "ENSG00000213741"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:49570984-49599164",
                            "ensembl_id": "ENSG00000213741"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-04"
            },
            "entity_type": "gene",
            "entity_name": "RPS29",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 13, MIM#\t615909"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "for review",
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "S7"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10440",
                "gene_name": "ribosomal protein S7",
                "omim_gene": [
                    "603658"
                ],
                "alias_name": null,
                "gene_symbol": "RPS7",
                "hgnc_symbol": "RPS7",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:3622795-3628509",
                            "ensembl_id": "ENSG00000171863"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:3575205-3580919",
                            "ensembl_id": "ENSG00000171863"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-07"
            },
            "entity_type": "gene",
            "entity_name": "RPS7",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "19061985",
                "23718193",
                "27882484",
                "32772263"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Diamond-Blackfan anaemia 8, MIM#\t612563"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "treatable",
                "haematological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RSK",
                    "RSK2",
                    "HU-3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10432",
                "gene_name": "ribosomal protein S6 kinase A3",
                "omim_gene": [
                    "300075"
                ],
                "alias_name": null,
                "gene_symbol": "RPS6KA3",
                "hgnc_symbol": "RPS6KA3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:20168029-20285523",
                            "ensembl_id": "ENSG00000177189"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:20149911-20267100",
                            "ensembl_id": "ENSG00000177189"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-11"
            },
            "entity_type": "gene",
            "entity_name": "RPS6KA3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Coffin-Lowry syndrome MIM# 303600"
            ],
            "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": [
                    "p53R2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17296",
                "gene_name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B",
                "omim_gene": [
                    "604712"
                ],
                "alias_name": null,
                "gene_symbol": "RRM2B",
                "hgnc_symbol": "RRM2B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:103216730-103251346",
                            "ensembl_id": "ENSG00000048392"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:102204502-102239118",
                            "ensembl_id": "ENSG00000048392"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-01-14"
            },
            "entity_type": "gene",
            "entity_name": "RRM2B",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075",
                "Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075",
                "Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315"
            ],
            "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": [
                    "XLRS1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10457",
                "gene_name": "retinoschisin 1",
                "omim_gene": [
                    "300839"
                ],
                "alias_name": null,
                "gene_symbol": "RS1",
                "hgnc_symbol": "RS1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:18658030-18690229",
                            "ensembl_id": "ENSG00000102104"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:18639910-18672109",
                            "ensembl_id": "ENSG00000102104"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "RS1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Retinoschisis, MIM#312700"
            ],
            "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": [
                    "dJ412I7.1",
                    "FLJ37974",
                    "RSPH6B",
                    "CILD11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21558",
                "gene_name": "radial spoke head 4 homolog A",
                "omim_gene": [
                    "612647"
                ],
                "alias_name": null,
                "gene_symbol": "RSPH4A",
                "hgnc_symbol": "RSPH4A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:116937642-116954148",
                            "ensembl_id": "ENSG00000111834"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:116616479-116632985",
                            "ensembl_id": "ENSG00000111834"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-02-17"
            },
            "entity_type": "gene",
            "entity_name": "RSPH4A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ciliary dyskinesia, primary, 11 (MIM#612649)"
            ],
            "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": [
                    "FLJ30845",
                    "CILD12"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21057",
                "gene_name": "radial spoke head 9 homolog",
                "omim_gene": [
                    "612648"
                ],
                "alias_name": null,
                "gene_symbol": "RSPH9",
                "hgnc_symbol": "RSPH9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:43612783-43640336",
                            "ensembl_id": "ENSG00000172426"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:43645046-43672599",
                            "ensembl_id": "ENSG00000172426"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2009-02-17"
            },
            "entity_type": "gene",
            "entity_name": "RSPH9",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Ciliary dyskinesia, primary, 12 (MIM#612650)"
            ],
            "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": [
                    "AML3",
                    "PEBP2A1",
                    "PEBP2aA1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10472",
                "gene_name": "runt related transcription factor 2",
                "omim_gene": [
                    "600211"
                ],
                "alias_name": null,
                "gene_symbol": "RUNX2",
                "hgnc_symbol": "RUNX2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "6:45295894-45632086",
                            "ensembl_id": "ENSG00000124813"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "6:45328157-45664349",
                            "ensembl_id": "ENSG00000124813"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-11-02"
            },
            "entity_type": "gene",
            "entity_name": "RUNX2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Cleidocranial dysplasia MIM#119600",
                "Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600",
                "Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600",
                "Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510"
            ],
            "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": [
                    "RYR",
                    "PPP1R137"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10483",
                "gene_name": "ryanodine receptor 1",
                "omim_gene": [
                    "180901"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 137"
                ],
                "gene_symbol": "RYR1",
                "hgnc_symbol": "RYR1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:38924339-39078204",
                            "ensembl_id": "ENSG00000196218"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:38433699-38587564",
                            "ensembl_id": "ENSG00000196218"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-12-01"
            },
            "entity_type": "gene",
            "entity_name": "RYR1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene",
                "BabySeq Category B gene",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "{Malignant hyperthermia susceptibility 1} MIM#145600"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "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": [
                    "ARVC2",
                    "VTSIP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10484",
                "gene_name": "ryanodine receptor 2",
                "omim_gene": [
                    "180902"
                ],
                "alias_name": null,
                "gene_symbol": "RYR2",
                "hgnc_symbol": "RYR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:237205505-237997288",
                            "ensembl_id": "ENSG00000198626"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:237042205-237833988",
                            "ensembl_id": "ENSG00000198626"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-12-07"
            },
            "entity_type": "gene",
            "entity_name": "RYR2",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Arrhythmogenic right ventricular dysplasia 2",
                "Ventricular tachycardia, catecholaminergic polymorphic"
            ],
            "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": [
                    "ARSACS",
                    "KIAA0730",
                    "DKFZp686B15167",
                    "DNAJC29",
                    "SPAX6",
                    "PPP1R138"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10519",
                "gene_name": "sacsin molecular chaperone",
                "omim_gene": [
                    "604490"
                ],
                "alias_name": [
                    "protein phosphatase 1, regulatory subunit 138"
                ],
                "gene_symbol": "SACS",
                "hgnc_symbol": "SACS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:23902965-24007841",
                            "ensembl_id": "ENSG00000151835"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:23328826-23411513",
                            "ensembl_id": "ENSG00000151835"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-11-19"
            },
            "entity_type": "gene",
            "entity_name": "SACS",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Spastic ataxia, Charlevoix-Saguenay type MIM#270550"
            ],
            "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": [
                    "Hsal1",
                    "ZNF794"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10524",
                "gene_name": "spalt like transcription factor 1",
                "omim_gene": [
                    "602218"
                ],
                "alias_name": null,
                "gene_symbol": "SALL1",
                "hgnc_symbol": "SALL1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:51169886-51185278",
                            "ensembl_id": "ENSG00000103449"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:51135975-51151367",
                            "ensembl_id": "ENSG00000103449"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1996-10-11"
            },
            "entity_type": "gene",
            "entity_name": "SALL1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Townes-Brocks syndrome 1, MIM#107480"
            ],
            "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": [
                    "SBBI88",
                    "Mg11",
                    "HDDC1",
                    "MOP-5",
                    "AGS5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15925",
                "gene_name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
                "omim_gene": [
                    "606754"
                ],
                "alias_name": [
                    "HD domain containing 1",
                    "monocyte protein 5",
                    "Aicardi-Goutieres syndrome 5"
                ],
                "gene_symbol": "SAMHD1",
                "hgnc_symbol": "SAMHD1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:35518632-35580246",
                            "ensembl_id": "ENSG00000101347"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:36890229-36951843",
                            "ensembl_id": "ENSG00000101347"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-07-31"
            },
            "entity_type": "gene",
            "entity_name": "SAMHD1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "32877590"
            ],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Aicardi-Goutieres syndrome 5, MIM# 612952"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "for review",
                "treatable",
                "neurological"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CGI-97",
                    "FLJ10917",
                    "SDS",
                    "SWDS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:19440",
                "gene_name": "SBDS, ribosome maturation factor",
                "omim_gene": [
                    "607444"
                ],
                "alias_name": null,
                "gene_symbol": "SBDS",
                "hgnc_symbol": "SBDS",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:66452664-66460588",
                            "ensembl_id": "ENSG00000126524"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:66987677-66995601",
                            "ensembl_id": "ENSG00000126524"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2003-07-02"
            },
            "entity_type": "gene",
            "entity_name": "SBDS",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "22191555",
                "20301722"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Shwachman-Diamond syndrome, MIM# 260400"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "haematological",
                "gastrointestinal"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Nav1.9",
                    "NaN",
                    "SNS-2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10583",
                "gene_name": "sodium voltage-gated channel alpha subunit 11",
                "omim_gene": [
                    "604385"
                ],
                "alias_name": null,
                "gene_symbol": "SCN11A",
                "hgnc_symbol": "SCN11A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:38887260-38992052",
                            "ensembl_id": "ENSG00000168356"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:38845769-38950561",
                            "ensembl_id": "ENSG00000168356"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1998-11-06"
            },
            "entity_type": "gene",
            "entity_name": "SCN11A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548"
            ],
            "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": [
                    "Nav1.1",
                    "GEFSP2",
                    "HBSCI",
                    "NAC1",
                    "SMEI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10585",
                "gene_name": "sodium voltage-gated channel alpha subunit 1",
                "omim_gene": [
                    "182389"
                ],
                "alias_name": null,
                "gene_symbol": "SCN1A",
                "hgnc_symbol": "SCN1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:166845670-166984523",
                            "ensembl_id": "ENSG00000144285"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:165984641-166149214",
                            "ensembl_id": "ENSG00000144285"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-11-28"
            },
            "entity_type": "gene",
            "entity_name": "SCN1A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20301494"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403",
                "Developmental and epileptic encephalopathy 6B, non-Dravet\t, MIM#619317"
            ],
            "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": [
                    "Nav1.2",
                    "HBSCII",
                    "HBSCI"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10588",
                "gene_name": "sodium voltage-gated channel alpha subunit 2",
                "omim_gene": [
                    "182390"
                ],
                "alias_name": null,
                "gene_symbol": "SCN2A",
                "hgnc_symbol": "SCN2A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:166095912-166248818",
                            "ensembl_id": "ENSG00000136531"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:165194993-165392310",
                            "ensembl_id": "ENSG00000136531"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-01-23"
            },
            "entity_type": "gene",
            "entity_name": "SCN2A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Developmental and epileptic encephalopathy 11, MIM#\t613721"
            ],
            "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": [
                    "Nav1.3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10590",
                "gene_name": "sodium voltage-gated channel alpha subunit 3",
                "omim_gene": [
                    "182391"
                ],
                "alias_name": null,
                "gene_symbol": "SCN3A",
                "hgnc_symbol": "SCN3A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:165944032-166060577",
                            "ensembl_id": "ENSG00000153253"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:165087522-165204067",
                            "ensembl_id": "ENSG00000153253"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-04-10"
            },
            "entity_type": "gene",
            "entity_name": "SCN3A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "34081427"
            ],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Epileptic encephalopathy, early infantile, 62, MIM# 617938"
            ],
            "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": [
                    "Nav1.4",
                    "HYPP",
                    "SkM1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10591",
                "gene_name": "sodium voltage-gated channel alpha subunit 4",
                "omim_gene": [
                    "603967"
                ],
                "alias_name": null,
                "gene_symbol": "SCN4A",
                "hgnc_symbol": "SCN4A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:62015914-62050278",
                            "ensembl_id": "ENSG00000007314"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:63938554-63972918",
                            "ensembl_id": "ENSG00000007314"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1990-09-30"
            },
            "entity_type": "gene",
            "entity_name": "SCN4A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "BabySeq Category C gene",
                "BabySeq Category A gene",
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Hyperkalemic periodic paralysis, type 2, MIM# 170500",
                "Hypokalemic periodic paralysis, type 2",
                "Paramyotonia congenita , MIM#168300",
                "Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390",
                "Myasthenic syndrome, congenital, 16, MIM# 614198",
                "Hyperkalemic periodic paralysis, type 2",
                "Hypokalemic periodic paralysis, type 2, MIM# 613345"
            ],
            "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": [
                    "Nav1.5",
                    "LQT3",
                    "HB1",
                    "HBBD",
                    "PFHB1",
                    "IVF",
                    "HB2",
                    "HH1",
                    "SSS1",
                    "CDCD2",
                    "CMPD2",
                    "ICCD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10593",
                "gene_name": "sodium voltage-gated channel alpha subunit 5",
                "omim_gene": [
                    "600163"
                ],
                "alias_name": [
                    "long QT syndrome 3"
                ],
                "gene_symbol": "SCN5A",
                "hgnc_symbol": "SCN5A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:38589548-38691164",
                            "ensembl_id": "ENSG00000183873"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:38548057-38649673",
                            "ensembl_id": "ENSG00000183873"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1992-04-10"
            },
            "entity_type": "gene",
            "entity_name": "SCN5A",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category B gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Long QT syndrome 3 (MIM#603830)",
                "Brugada syndrome 1, MIM# 601144"
            ],
            "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": [
                    "Nav1.6",
                    "NaCh6",
                    "PN4",
                    "CerIII",
                    "CIAT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10596",
                "gene_name": "sodium voltage-gated channel alpha subunit 8",
                "omim_gene": [
                    "600702"
                ],
                "alias_name": null,
                "gene_symbol": "SCN8A",
                "hgnc_symbol": "SCN8A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:51984050-52206648",
                            "ensembl_id": "ENSG00000196876"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:51590266-51812864",
                            "ensembl_id": "ENSG00000196876"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-08-23"
            },
            "entity_type": "gene",
            "entity_name": "SCN8A",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BeginNGS"
            ],
            "phenotypes": [
                "Developmental and epileptic encephalopathy 13, MIM#614558"
            ],
            "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": [
                    "ENaCalpha"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10599",
                "gene_name": "sodium channel epithelial 1 alpha subunit",
                "omim_gene": [
                    "600228"
                ],
                "alias_name": null,
                "gene_symbol": "SCNN1A",
                "hgnc_symbol": "SCNN1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:6456009-6486896",
                            "ensembl_id": "ENSG00000111319"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:6346843-6377730",
                            "ensembl_id": "ENSG00000111319"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-07-12"
            },
            "entity_type": "gene",
            "entity_name": "SCNN1A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Pseudohypoaldosteronism, type I, MIM# 264350"
            ],
            "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": [
                    "ENaCbeta"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10600",
                "gene_name": "sodium channel epithelial 1 beta subunit",
                "omim_gene": [
                    "600760"
                ],
                "alias_name": [
                    "Liddle syndrome"
                ],
                "gene_symbol": "SCNN1B",
                "hgnc_symbol": "SCNN1B",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:23289552-23392620",
                            "ensembl_id": "ENSG00000168447"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:23278231-23381299",
                            "ensembl_id": "ENSG00000168447"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-20"
            },
            "entity_type": "gene",
            "entity_name": "SCNN1B",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Pseudohypoaldosteronism, type I MIM# 264350"
            ],
            "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": [
                    "ENaCgamma",
                    "SCNEG"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10602",
                "gene_name": "sodium channel epithelial 1 gamma subunit",
                "omim_gene": [
                    "600761"
                ],
                "alias_name": null,
                "gene_symbol": "SCNN1G",
                "hgnc_symbol": "SCNN1G",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:23194036-23228204",
                            "ensembl_id": "ENSG00000166828"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:23182715-23216883",
                            "ensembl_id": "ENSG00000166828"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-05-10"
            },
            "entity_type": "gene",
            "entity_name": "SCNN1G",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category C gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Pseudohypoaldosteronism, type I, MIM#\t264350"
            ],
            "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": [
                    "SCO1L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10604",
                "gene_name": "SCO2, cytochrome c oxidase assembly protein",
                "omim_gene": [
                    "604272"
                ],
                "alias_name": null,
                "gene_symbol": "SCO2",
                "hgnc_symbol": "SCO2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:50961997-50964868",
                            "ensembl_id": "ENSG00000130489"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:50523568-50525606",
                            "ensembl_id": "ENSG00000130489"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-10-12"
            },
            "entity_type": "gene",
            "entity_name": "SCO2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377"
            ],
            "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": [
                    "cybS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10683",
                "gene_name": "succinate dehydrogenase complex subunit D",
                "omim_gene": [
                    "602690"
                ],
                "alias_name": [
                    "small subunit of cytochrome b"
                ],
                "gene_symbol": "SDHD",
                "hgnc_symbol": "SDHD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:111957497-111990353",
                            "ensembl_id": "ENSG00000204370"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "11:112086773-112120013",
                            "ensembl_id": "ENSG00000204370"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-10-21"
            },
            "entity_type": "gene",
            "entity_name": "SDHD",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167",
                "Paragangliomas 1, with or without deafness, MIM# 168000"
            ],
            "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": [
                    "SELN",
                    "RSS"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15999",
                "gene_name": "selenoprotein N",
                "omim_gene": [
                    "606210"
                ],
                "alias_name": null,
                "gene_symbol": "SELENON",
                "hgnc_symbol": "SELENON",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:26126667-26144713",
                            "ensembl_id": "ENSG00000162430"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "1:25800176-25818224",
                            "ensembl_id": "ENSG00000162430"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2016-09-21"
            },
            "entity_type": "gene",
            "entity_name": "SELENON",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Myopathy, congenital, with fiber-type disproportion, MIM# 255310"
            ],
            "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": [
                    "AAT",
                    "A1A",
                    "PI1",
                    "alpha-1-antitrypsin",
                    "A1AT",
                    "alpha1AT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8941",
                "gene_name": "serpin family A member 1",
                "omim_gene": [
                    "107400"
                ],
                "alias_name": [
                    "protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"
                ],
                "gene_symbol": "SERPINA1",
                "hgnc_symbol": "SERPINA1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:94843084-94857030",
                            "ensembl_id": "ENSG00000197249"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "14:94376747-94390693",
                            "ensembl_id": "ENSG00000197249"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "SERPINA1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490"
            ],
            "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": [
                    "SEB",
                    "KIAA0437"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15573",
                "gene_name": "SET binding protein 1",
                "omim_gene": [
                    "611060"
                ],
                "alias_name": null,
                "gene_symbol": "SETBP1",
                "hgnc_symbol": "SETBP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:42260138-42648475",
                            "ensembl_id": "ENSG00000152217"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "18:44680173-45068510",
                            "ensembl_id": "ENSG00000152217"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-05"
            },
            "entity_type": "gene",
            "entity_name": "SETBP1",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Schinzel-Giedion midface retraction syndrome, MIM# 269150"
            ],
            "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": [
                    "KIAA0625",
                    "AOA2",
                    "Sen1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:445",
                "gene_name": "senataxin",
                "omim_gene": [
                    "608465"
                ],
                "alias_name": null,
                "gene_symbol": "SETX",
                "hgnc_symbol": "SETX",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:135136743-135230372",
                            "ensembl_id": "ENSG00000107290"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:132261356-132354985",
                            "ensembl_id": "ENSG00000107290"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-11-29"
            },
            "entity_type": "gene",
            "entity_name": "SETX",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Spinocerebellar ataxia, autosomal recessive 1, 606002"
            ],
            "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": [
                    "SP-B"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10801",
                "gene_name": "surfactant protein B",
                "omim_gene": [
                    "178640"
                ],
                "alias_name": null,
                "gene_symbol": "SFTPB",
                "hgnc_symbol": "SFTPB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:85884437-85895864",
                            "ensembl_id": "ENSG00000168878"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:85657314-85668741",
                            "ensembl_id": "ENSG00000168878"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-07-06"
            },
            "entity_type": "gene",
            "entity_name": "SFTPB",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120"
            ],
            "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": [
                    "SP-C",
                    "PSP-C",
                    "SMDP2",
                    "BRICD6"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10802",
                "gene_name": "surfactant protein C",
                "omim_gene": [
                    "178620"
                ],
                "alias_name": [
                    "BRICHOS domain containing 6"
                ],
                "gene_symbol": "SFTPC",
                "hgnc_symbol": "SFTPC",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "8:22014426-22021992",
                            "ensembl_id": "ENSG00000168484"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "8:22156913-22164479",
                            "ensembl_id": "ENSG00000168484"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-05-11"
            },
            "entity_type": "gene",
            "entity_name": "SFTPC",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene"
            ],
            "phenotypes": [
                "Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913"
            ],
            "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": [
                    "SCARMD1",
                    "LGMD2D",
                    "adhalin",
                    "DMDA2",
                    "A2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10805",
                "gene_name": "sarcoglycan alpha",
                "omim_gene": [
                    "600119"
                ],
                "alias_name": [
                    "50kD DAG",
                    "adhalin",
                    "limb girdle muscular dystrophy 2D"
                ],
                "gene_symbol": "SGCA",
                "hgnc_symbol": "SGCA",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:48241575-48253292",
                            "ensembl_id": "ENSG00000108823"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:50164214-50175931",
                            "ensembl_id": "ENSG00000108823"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-14"
            },
            "entity_type": "gene",
            "entity_name": "SGCA",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099"
            ],
            "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": [
                    "SGC",
                    "A3b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10806",
                "gene_name": "sarcoglycan beta",
                "omim_gene": [
                    "600900"
                ],
                "alias_name": null,
                "gene_symbol": "SGCB",
                "hgnc_symbol": "SGCB",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:52886872-52904648",
                            "ensembl_id": "ENSG00000163069"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:52020706-52038482",
                            "ensembl_id": "ENSG00000163069"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-01-24"
            },
            "entity_type": "gene",
            "entity_name": "SGCB",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286"
            ],
            "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": [
                    "DAGD",
                    "LGMD2F",
                    "CMD1L"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10807",
                "gene_name": "sarcoglycan delta",
                "omim_gene": [
                    "601411"
                ],
                "alias_name": null,
                "gene_symbol": "SGCD",
                "hgnc_symbol": "SGCD",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:155297354-156194799",
                            "ensembl_id": "ENSG00000170624"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:155870344-156767788",
                            "ensembl_id": "ENSG00000170624"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-22"
            },
            "entity_type": "gene",
            "entity_name": "SGCD",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category C gene",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287"
            ],
            "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": [
                    "SCARMD2",
                    "DAGA4",
                    "SCG3",
                    "DMDA",
                    "TYPE",
                    "A4",
                    "MGC130048"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10809",
                "gene_name": "sarcoglycan gamma",
                "omim_gene": [
                    "608896"
                ],
                "alias_name": [
                    "Maghrebian myopathy (autosomal recessive)",
                    "35kD dystrophin-associated glycoprotein",
                    "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)",
                    "gamma sarcoglycan"
                ],
                "gene_symbol": "SGCG",
                "hgnc_symbol": "SGCG",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "13:23755091-23899304",
                            "ensembl_id": "ENSG00000102683"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:23180952-23325165",
                            "ensembl_id": "ENSG00000102683"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-07-22"
            },
            "entity_type": "gene",
            "entity_name": "SGCG",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700"
            ],
            "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": [
                    "HSS",
                    "MPS3A",
                    "SFMD"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10818",
                "gene_name": "N-sulfoglucosamine sulfohydrolase",
                "omim_gene": [
                    "605270"
                ],
                "alias_name": [
                    "sulfamidase",
                    "mucopolysaccharidosis type IIIA"
                ],
                "gene_symbol": "SGSH",
                "hgnc_symbol": "SGSH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:78180515-78194722",
                            "ensembl_id": "ENSG00000181523"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:80206716-80220923",
                            "ensembl_id": "ENSG00000181523"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1997-06-24"
            },
            "entity_type": "gene",
            "entity_name": "SGSH",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "31044143"
            ],
            "evidence": [
                "Expert Review Amber",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "clinical trial"
            ],
            "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": [
                    "XLP",
                    "MTCP1",
                    "DSHP",
                    "XLPD",
                    "EBVS",
                    "SAP"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10820",
                "gene_name": "SH2 domain containing 1A",
                "omim_gene": [
                    "300490"
                ],
                "alias_name": [
                    "Duncan's disease"
                ],
                "gene_symbol": "SH2D1A",
                "hgnc_symbol": "SH2D1A",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "X:123480194-123507005",
                            "ensembl_id": "ENSG00000183918"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "X:124227868-124373197",
                            "ensembl_id": "ENSG00000183918"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "SH2D1A",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "20301580"
            ],
            "evidence": [
                "Expert Review Green",
                "BabySeq Category A gene",
                "BeginNGS"
            ],
            "phenotypes": [
                "Lymphoproliferative syndrome, X-linked, 1, MIM# 308240"
            ],
            "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": [
                    "KIAA1985",
                    "CMT4C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29427",
                "gene_name": "SH3 domain and tetratricopeptide repeats 2",
                "omim_gene": [
                    "608206"
                ],
                "alias_name": null,
                "gene_symbol": "SH3TC2",
                "hgnc_symbol": "SH3TC2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:148303202-148442726",
                            "ensembl_id": "ENSG00000169247"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:148923639-149063163",
                            "ensembl_id": "ENSG00000169247"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2004-12-15"
            },
            "entity_type": "gene",
            "entity_name": "SH3TC2",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Charcot-Marie-Tooth disease, type 4C MIM#601596"
            ],
            "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": [
                    "SPANK-2",
                    "prosap2",
                    "KIAA1650",
                    "PSAP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14294",
                "gene_name": "SH3 and multiple ankyrin repeat domains 3",
                "omim_gene": [
                    "606230"
                ],
                "alias_name": [
                    "proline rich synapse associated protein 2",
                    "shank postsynaptic density protein"
                ],
                "gene_symbol": "SHANK3",
                "hgnc_symbol": "SHANK3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "22:51112843-51171726",
                            "ensembl_id": "ENSG00000251322"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "22:50674415-50733298",
                            "ensembl_id": "ENSG00000251322"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2002-02-22"
            },
            "entity_type": "gene",
            "entity_name": "SHANK3",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [
                "17173049",
                "30842224",
                "16284256",
                "20186804",
                "22892527"
            ],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Phelan-McDermid syndrome, MIM# 606232",
                "MONDO:0011652"
            ],
            "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": [
                    "HHG1",
                    "SMMCI",
                    "TPT",
                    "TPTPS",
                    "MCOPCB5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:10848",
                "gene_name": "sonic hedgehog",
                "omim_gene": [
                    "600725"
                ],
                "alias_name": null,
                "gene_symbol": "SHH",
                "hgnc_symbol": "SHH",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:155592680-155604967",
                            "ensembl_id": "ENSG00000164690"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:155799986-155812273",
                            "ensembl_id": "ENSG00000164690"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1995-03-10"
            },
            "entity_type": "gene",
            "entity_name": "SHH",
            "confidence_level": "1",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Red",
                "BabySeq Category A gene"
            ],
            "phenotypes": [
                "Holoprosencephaly 3, MIM#142945"
            ],
            "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:10856",
                "gene_name": "sucrase-isomaltase",
                "omim_gene": [
                    "609845"
                ],
                "alias_name": [
                    "Oligosaccharide alpha-1,6-glucosidase",
                    "alpha-glucosidase"
                ],
                "gene_symbol": "SI",
                "hgnc_symbol": "SI",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:164696686-164796283",
                            "ensembl_id": "ENSG00000090402"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:164978898-165078495",
                            "ensembl_id": "ENSG00000090402"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "SI",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Green",
                "BeginNGS"
            ],
            "phenotypes": [
                "Sucrase-isomaltase deficiency, congenital, MIM#\t222900"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "treatable",
                "gastrointestinal"
            ],
            "panel": {
                "id": 3931,
                "hash_id": null,
                "name": "Genomic newborn screening: BabyScreen+",
                "disease_group": "Screening",
                "disease_sub_group": "",
                "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)",
                "status": "public",
                "version": "1.148",
                "version_created": "2026-03-31T15:17:11.094244+11:00",
                "relevant_disorders": [],
                "stats": {
                    "number_of_genes": 1723,
                    "number_of_strs": 0,
                    "number_of_regions": 0
                },
                "types": [],
                "child_panel_ids": []
            },
            "transcript": null
        }
    ]
}