{"count":35518,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=335","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=333","results":[{"gene_data":{"alias":["HMT-1","HMAT1","CDG1K","Mat-1"],"biotype":"protein_coding","hgnc_id":"HGNC:18294","gene_name":"ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase","omim_gene":["605907"],"alias_name":null,"gene_symbol":"ALG1","hgnc_symbol":"ALG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:5083703-5137380","ensembl_id":"ENSG00000033011"}},"GRch38":{"90":{"location":"16:5033960-5087379","ensembl_id":"ENSG00000033011"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Congenital disorder of glycosylation, type Ik 608540"],"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:417","gene_name":"aldolase, fructose-bisphosphate B","omim_gene":["612724"],"alias_name":null,"gene_symbol":"ALDOB","hgnc_symbol":"ALDOB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:104182860-104198105","ensembl_id":"ENSG00000136872"}},"GRch38":{"90":{"location":"9:101420578-101435823","ensembl_id":"ENSG00000136872"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALDOB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Fructose intolerance, hereditary, MIM# 229600"],"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":["EPD","PDE"],"biotype":"protein_coding","hgnc_id":"HGNC:877","gene_name":"aldehyde dehydrogenase 7 family member A1","omim_gene":["107323"],"alias_name":["antiquitin 1","26g turgor protein homolog","alpha-aminoadipic semialdehyde dehydrogenase","alpha-AASA dehydrogenase","delta1-piperideine-6-carboxylate dehydrogenease","P6c dehydrogenase"],"gene_symbol":"ALDH7A1","hgnc_symbol":"ALDH7A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:125877533-125931110","ensembl_id":"ENSG00000164904"}},"GRch38":{"90":{"location":"5:126531200-126595418","ensembl_id":"ENSG00000164904"}}},"hgnc_date_symbol_changed":"1995-12-11"},"entity_type":"gene","entity_name":"ALDH7A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33200442"],"evidence":["Expert Review Green","BeginNGS","Expert list"],"phenotypes":["Epilepsy, pyridoxine-dependent, MIM#\t266100"],"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":["SSADH","SSDH"],"biotype":"protein_coding","hgnc_id":"HGNC:408","gene_name":"aldehyde dehydrogenase 5 family member A1","omim_gene":["610045"],"alias_name":["succinate-semialdehyde dehydrogenase"],"gene_symbol":"ALDH5A1","hgnc_symbol":"ALDH5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24495080-24537435","ensembl_id":"ENSG00000112294"}},"GRch38":{"90":{"location":"6:24494852-24537207","ensembl_id":"ENSG00000112294"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"ALDH5A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Succinic semialdehyde dehydrogenase deficiency, MIM# 271980"],"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":["FALDH"],"biotype":"protein_coding","hgnc_id":"HGNC:403","gene_name":"aldehyde dehydrogenase 3 family member A2","omim_gene":["609523"],"alias_name":["fatty aldehyde dehydrogenase"],"gene_symbol":"ALDH3A2","hgnc_symbol":"ALDH3A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:19551449-19580911","ensembl_id":"ENSG00000072210"}},"GRch38":{"90":{"location":"17:19648136-19677598","ensembl_id":"ENSG00000072210"}}},"hgnc_date_symbol_changed":"1996-06-14"},"entity_type":"gene","entity_name":"ALDH3A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Sjogren-Larsson syndrome MIM#270200"],"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":["P5CS"],"biotype":"protein_coding","hgnc_id":"HGNC:9722","gene_name":"aldehyde dehydrogenase 18 family member A1","omim_gene":["138250"],"alias_name":null,"gene_symbol":"ALDH18A1","hgnc_symbol":"ALDH18A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:97365696-97416463","ensembl_id":"ENSG00000059573"}},"GRch38":{"90":{"location":"10:95605929-95656706","ensembl_id":"ENSG00000059573"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"ALDH18A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cutis laxa, autosomal recessive, type IIIA MIM#219150","Spastic paraplegia 9A, autosomal dominant MIM#601162","Spastic paraplegia 9B, autosomal recessive MIM#616586","Cutis laxa, autosomal dominant 3 MIM#616603","disorders of ornithine or proline metabolism"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:399","gene_name":"albumin","omim_gene":["103600"],"alias_name":null,"gene_symbol":"ALB","hgnc_symbol":"ALB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:74262831-74287129","ensembl_id":"ENSG00000163631"}},"GRch38":{"90":{"location":"4:73397114-73421412","ensembl_id":"ENSG00000163631"}}},"hgnc_date_symbol_changed":"2006-06-30"},"entity_type":"gene","entity_name":"ALB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Analbuminemia, MIM# 616000"],"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:397","gene_name":"5'-aminolevulinate synthase 2","omim_gene":["301300"],"alias_name":["sideroblastic/hypochromic anemia"],"gene_symbol":"ALAS2","hgnc_symbol":"ALAS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:55035488-55057497","ensembl_id":"ENSG00000158578"}},"GRch38":{"90":{"location":"X:55009055-55031064","ensembl_id":"ENSG00000158578"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"ALAS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Anaemia, sideroblastic, 1, MIM# 300751","Protoporphyria, erythropoietic, X-linked, MIM# 300752"],"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":["hGCMb"],"biotype":"protein_coding","hgnc_id":"HGNC:4198","gene_name":"glial cells missing homolog 2","omim_gene":["603716"],"alias_name":null,"gene_symbol":"GCM2","hgnc_symbol":"GCM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:10873456-10882174","ensembl_id":"ENSG00000124827"}},"GRch38":{"90":{"location":"6:10873223-10881941","ensembl_id":"ENSG00000124827"}}},"hgnc_date_symbol_changed":"2002-09-27"},"entity_type":"gene","entity_name":"GCM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27745835","20190276","34967908","35038313"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hyperparathyroidism 4, OMIM #617343","Hypoparathyroidism, familial isolated 2, OMIM #618883"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:388","gene_name":"aldo-keto reductase family 1 member D1","omim_gene":["604741"],"alias_name":["delta 4-3-ketosteroid-5-beta-reductase"],"gene_symbol":"AKR1D1","hgnc_symbol":"AKR1D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:137687070-137802732","ensembl_id":"ENSG00000122787"}},"GRch38":{"90":{"location":"7:138002324-138117986","ensembl_id":"ENSG00000122787"}}},"hgnc_date_symbol_changed":"1995-11-02"},"entity_type":"gene","entity_name":"AKR1D1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Bile acid synthesis defect, congenital, 2"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","GI"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","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:362","gene_name":"adenylate kinase 2","omim_gene":["103020"],"alias_name":null,"gene_symbol":"AK2","hgnc_symbol":"AK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:33473585-33546597","ensembl_id":"ENSG00000004455"}},"GRch38":{"90":{"location":"1:33007940-33080996","ensembl_id":"ENSG00000004455"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19043416","19043417"],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Reticular dysgenesis, MIM# 267500","MONDO:0009973"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PGA1","APS1"],"biotype":"protein_coding","hgnc_id":"HGNC:360","gene_name":"autoimmune regulator","omim_gene":["607358"],"alias_name":["autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"],"gene_symbol":"AIRE","hgnc_symbol":"AIRE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45705721-45718531","ensembl_id":"ENSG00000160224"}},"GRch38":{"90":{"location":"21:44285838-44298648","ensembl_id":"ENSG00000160224"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"AIRE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300"],"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":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Combined oxidative phosphorylation deficiency 6, 300816","Cowchock syndrome, 310490","Deafness, X-linked 5, 300614","Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232"],"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":["FLJ20069","ORF1","JBTS3"],"biotype":"protein_coding","hgnc_id":"HGNC:21575","gene_name":"Abelson helper integration site 1","omim_gene":["608894"],"alias_name":["Jouberin"],"gene_symbol":"AHI1","hgnc_symbol":"AHI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:135604670-135818914","ensembl_id":"ENSG00000135541"}},"GRch38":{"90":{"location":"6:135283532-135497776","ensembl_id":"ENSG00000135541"}}},"hgnc_date_symbol_changed":"2003-08-22"},"entity_type":"gene","entity_name":"AHI1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15322546","15467982","16155189"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Joubert syndrome 3, MIM# 608629"],"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":["SAHH"],"biotype":"protein_coding","hgnc_id":"HGNC:343","gene_name":"adenosylhomocysteinase","omim_gene":["180960"],"alias_name":null,"gene_symbol":"AHCY","hgnc_symbol":"AHCY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:32868074-32899608","ensembl_id":"ENSG00000101444"}},"GRch38":{"90":{"location":"20:34280268-34311802","ensembl_id":"ENSG00000101444"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AHCY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#\t613752"],"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":["AGXT1","PH1","AGT","SPT","AGT1"],"biotype":"protein_coding","hgnc_id":"HGNC:341","gene_name":"alanine-glyoxylate aminotransferase","omim_gene":["604285"],"alias_name":["oxalosis I","primary hyperoxaluria type 1","L-alanine: glyoxylate aminotransferase 1","serine:pyruvate aminotransferase","glycolicaciduria"],"gene_symbol":"AGXT","hgnc_symbol":"AGXT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:241807896-241819919","ensembl_id":"ENSG00000172482"}},"GRch38":{"90":{"location":"2:240868479-240880502","ensembl_id":"ENSG00000172482"}}},"hgnc_date_symbol_changed":"1990-11-20"},"entity_type":"gene","entity_name":"AGXT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33789010"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DNC","MUP1","TPC"],"biotype":"protein_coding","hgnc_id":"HGNC:14409","gene_name":"solute carrier family 25 member 19","omim_gene":["606521"],"alias_name":null,"gene_symbol":"SLC25A19","hgnc_symbol":"SLC25A19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73269073-73285591","ensembl_id":"ENSG00000125454"}},"GRch38":{"90":{"location":"17:75272981-75289510","ensembl_id":"ENSG00000125454"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"SLC25A19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31095747"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:329","gene_name":"agrin","omim_gene":["103320"],"alias_name":null,"gene_symbol":"AGRN","hgnc_symbol":"AGRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:955503-991496","ensembl_id":"ENSG00000188157"}},"GRch38":{"90":{"location":"1:1020123-1056118","ensembl_id":"ENSG00000188157"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"AGRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","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":["NCS2"],"biotype":"protein_coding","hgnc_id":"HGNC:28005","gene_name":"cytosolic thiouridylase subunit 2","omim_gene":["617057"],"alias_name":null,"gene_symbol":"CTU2","hgnc_symbol":"CTU2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88772871-88781794","ensembl_id":"ENSG00000174177"}},"GRch38":{"90":{"location":"16:88706463-88715386","ensembl_id":"ENSG00000174177"}}},"hgnc_date_symbol_changed":"2009-08-19"},"entity_type":"gene","entity_name":"CTU2","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31301155","27480277","26633546"],"evidence":["Literature"],"phenotypes":["global developmental delay","microcephaly","growth restriction","dysmorphism","renal agenesis","congenital heart defects, epilepsy, microphthalmia","coloboma"],"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":["ELP-1","ERD2.2"],"biotype":"protein_coding","hgnc_id":"HGNC:6305","gene_name":"KDEL endoplasmic reticulum protein retention receptor 2","omim_gene":["609024"],"alias_name":null,"gene_symbol":"KDELR2","hgnc_symbol":"KDELR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:6485584-6523873","ensembl_id":"ENSG00000136240"}},"GRch38":{"90":{"location":"7:6445953-6484242","ensembl_id":"ENSG00000136240"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"KDELR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteogenesis imperfecta 21, MIM# 619131"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NACT"],"biotype":"protein_coding","hgnc_id":"HGNC:23089","gene_name":"solute carrier family 13 member 5","omim_gene":["608305"],"alias_name":null,"gene_symbol":"SLC13A5","hgnc_symbol":"SLC13A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:6588032-6616886","ensembl_id":"ENSG00000141485"}},"GRch38":{"90":{"location":"17:6684713-6713567","ensembl_id":"ENSG00000141485"}}},"hgnc_date_symbol_changed":"2003-09-09"},"entity_type":"gene","entity_name":"SLC13A5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29895383"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905"],"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":[]},{"gene_data":{"alias":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11073","gene_name":"solute carrier family 9 member A3","omim_gene":["182307"],"alias_name":null,"gene_symbol":"SLC9A3","hgnc_symbol":"SLC9A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:473425-524447","ensembl_id":"ENSG00000066230"}},"GRch38":{"90":{"location":"5:473310-524332","ensembl_id":"ENSG00000066230"}}},"hgnc_date_symbol_changed":"1992-06-12"},"entity_type":"gene","entity_name":"SLC9A3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Diarrhoea 8, secretory sodium, congenital, MiM# 616868"],"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":[]},{"gene_data":{"alias":["hCHT","CHT1"],"biotype":"protein_coding","hgnc_id":"HGNC:14025","gene_name":"solute carrier family 5 member 7","omim_gene":["608761"],"alias_name":null,"gene_symbol":"SLC5A7","hgnc_symbol":"SLC5A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:108602979-108630450","ensembl_id":"ENSG00000115665"}},"GRch38":{"90":{"location":"2:107986523-108013994","ensembl_id":"ENSG00000115665"}}},"hgnc_date_symbol_changed":"2000-11-27"},"entity_type":"gene","entity_name":"SLC5A7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301347"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143"],"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":[]},{"gene_data":{"alias":["SMVT"],"biotype":"protein_coding","hgnc_id":"HGNC:11041","gene_name":"solute carrier family 5 member 6","omim_gene":["604024"],"alias_name":null,"gene_symbol":"SLC5A6","hgnc_symbol":"SLC5A6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27422455-27435826","ensembl_id":"ENSG00000138074"}},"GRch38":{"90":{"location":"2:27199587-27212958","ensembl_id":"ENSG00000138074"}}},"hgnc_date_symbol_changed":"1999-01-19"},"entity_type":"gene","entity_name":"SLC5A6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973"],"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":[]},{"gene_data":{"alias":["KIAA0062","NET34","ZIP14"],"biotype":"protein_coding","hgnc_id":"HGNC:20858","gene_name":"solute carrier family 39 member 14","omim_gene":["608736"],"alias_name":null,"gene_symbol":"SLC39A14","hgnc_symbol":"SLC39A14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:22224762-22291642","ensembl_id":"ENSG00000104635"}},"GRch38":{"90":{"location":"8:22367249-22434129","ensembl_id":"ENSG00000104635"}}},"hgnc_date_symbol_changed":"2003-10-23"},"entity_type":"gene","entity_name":"SLC39A14","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31089831"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Hypermanganesemia with dystonia 2, MIM# 617013"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","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":[]},{"gene_data":{"alias":["DKFZp547M236","ZnT-10","ZRC1","ZNT8"],"biotype":"protein_coding","hgnc_id":"HGNC:25355","gene_name":"solute carrier family 30 member 10","omim_gene":["611146"],"alias_name":["zinc transporter 8"],"gene_symbol":"SLC30A10","hgnc_symbol":"SLC30A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:219858769-220131989","ensembl_id":"ENSG00000196660"}},"GRch38":{"90":{"location":"1:219685427-219958647","ensembl_id":"ENSG00000196660"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"SLC30A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31089831"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypermanganesemia with dystonia 1, MIM# 613280"],"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":[]},{"gene_data":{"alias":["H2-KE4","D6S2244E","KE4","RING5","ZIP7"],"biotype":"protein_coding","hgnc_id":"HGNC:4927","gene_name":"solute carrier family 39 member 7","omim_gene":["601416"],"alias_name":null,"gene_symbol":"SLC39A7","hgnc_symbol":"SLC39A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:33168222-33172216","ensembl_id":"ENSG00000112473"}},"GRch38":{"90":{"location":"6:33200445-33204439","ensembl_id":"ENSG00000112473"}}},"hgnc_date_symbol_changed":"2003-10-27"},"entity_type":"gene","entity_name":"SLC39A7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30718914"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Agammaglobulinaemia 9, autosomal recessive, MIM# 619693"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9986","gene_name":"regulatory factor X5","omim_gene":["601863"],"alias_name":null,"gene_symbol":"RFX5","hgnc_symbol":"RFX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151313116-151319833","ensembl_id":"ENSG00000143390"}},"GRch38":{"90":{"location":"1:151340640-151347357","ensembl_id":"ENSG00000143390"}}},"hgnc_date_symbol_changed":"1997-07-11"},"entity_type":"gene","entity_name":"RFX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Bare lymphocyte syndrome, type II, complementation group C MIM# 209920","Bare lymphocyte syndrome, type II, complementation group E 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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9988","gene_name":"regulatory factor X associated protein","omim_gene":["601861"],"alias_name":null,"gene_symbol":"RFXAP","hgnc_symbol":"RFXAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:37393361-37403241","ensembl_id":"ENSG00000133111"}},"GRch38":{"90":{"location":"13:36819224-36829104","ensembl_id":"ENSG00000133111"}}},"hgnc_date_symbol_changed":"1997-11-05"},"entity_type":"gene","entity_name":"RFXAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Bare lymphocyte syndrome, type II, complementation group D 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":[]},{"gene_data":{"alias":["C2TA","NLRA"],"biotype":"protein_coding","hgnc_id":"HGNC:7067","gene_name":"class II major histocompatibility complex transactivator","omim_gene":["600005"],"alias_name":["NLR family, acid domain containing","nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"],"gene_symbol":"CIITA","hgnc_symbol":"CIITA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:10971055-11026079","ensembl_id":"ENSG00000179583"}},"GRch38":{"90":{"location":"16:10866222-10932281","ensembl_id":"ENSG00000179583"}}},"hgnc_date_symbol_changed":"2005-08-12"},"entity_type":"gene","entity_name":"CIITA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Bare Lymphocyte Syndrome, type II, complementation group A 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":[]},{"gene_data":{"alias":["FLJ14466","CRACM1"],"biotype":null,"hgnc_id":"HGNC:25896","gene_name":"ORAI calcium release-activated calcium modulator 1","omim_gene":["610277"],"alias_name":["calcium release-activated calcium modulator 1"],"gene_symbol":"ORAI1","hgnc_symbol":"ORAI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122064455-122080583","ensembl_id":"ENSG00000182500"}},"GRch38":{"90":{"location":"12:121626550-121642677","ensembl_id":"ENSG00000276045"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"ORAI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Immunodeficiency 9, MIM# 612782"],"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":[]},{"gene_data":{"alias":["PI3K"],"biotype":"protein_coding","hgnc_id":"HGNC:8975","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","omim_gene":["171834"],"alias_name":null,"gene_symbol":"PIK3CA","hgnc_symbol":"PIK3CA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:178865902-178957881","ensembl_id":"ENSG00000121879"}},"GRch38":{"90":{"location":"3:179148114-179240093","ensembl_id":"ENSG00000121879"}}},"hgnc_date_symbol_changed":"1994-07-15"},"entity_type":"gene","entity_name":"PIK3CA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33392635","33639990"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["PIK3CA related overgrowth spectrum"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3680","gene_name":"fibroblast growth factor 23","omim_gene":["605380"],"alias_name":null,"gene_symbol":"FGF23","hgnc_symbol":"FGF23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4477393-4488894","ensembl_id":"ENSG00000118972"}},"GRch38":{"90":{"location":"12:4368227-4379728","ensembl_id":"ENSG00000118972"}}},"hgnc_date_symbol_changed":"2000-05-16"},"entity_type":"gene","entity_name":"FGF23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["autosomal dominant hypophosphatemic rickets MONDO:0008660","familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD41B","CD41","PPP1R93"],"biotype":"protein_coding","hgnc_id":"HGNC:6138","gene_name":"integrin subunit alpha 2b","omim_gene":["607759"],"alias_name":["protein phosphatase 1, regulatory subunit 93","platelet glycoprotein IIb of IIb/IIIa complex"],"gene_symbol":"ITGA2B","hgnc_symbol":"ITGA2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42449548-42466873","ensembl_id":"ENSG00000005961"}},"GRch38":{"90":{"location":"17:44372180-44389505","ensembl_id":"ENSG00000005961"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ITGA2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Glanzmann thrombasthaenia 1, MIM# 273800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD61","GPIIIa"],"biotype":"protein_coding","hgnc_id":"HGNC:6156","gene_name":"integrin subunit beta 3","omim_gene":["173470"],"alias_name":["platelet glycoprotein IIIa","antigen CD61"],"gene_symbol":"ITGB3","hgnc_symbol":"ITGB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:45331212-45421658","ensembl_id":"ENSG00000259207"}},"GRch38":{"90":{"location":"17:47253846-47311816","ensembl_id":"ENSG00000259207"}}},"hgnc_date_symbol_changed":"1988-06-09"},"entity_type":"gene","entity_name":"ITGB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Glanzmann thrombasthenia 2, MIM#\t619267"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["LCA2","rd12","BCO3"],"biotype":"protein_coding","hgnc_id":"HGNC:10294","gene_name":"RPE65, retinoid isomerohydrolase","omim_gene":["180069"],"alias_name":["BCO family, member 3","retinol isomerase","all-trans-retinyl-palmitate hydrolase"],"gene_symbol":"RPE65","hgnc_symbol":"RPE65","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:68894505-68915642","ensembl_id":"ENSG00000116745"}},"GRch38":{"90":{"location":"1:68428822-68449959","ensembl_id":"ENSG00000116745"}}},"hgnc_date_symbol_changed":"1993-10-04"},"entity_type":"gene","entity_name":"RPE65","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Leber congenital amaurosis 2 MIM#204100","Retinitis pigmentosa 20 MIM#613794"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","treatable","ophthalmological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CAMI","PHKD","DD132"],"biotype":"protein_coding","hgnc_id":"HGNC:1442","gene_name":"calmodulin 1","omim_gene":["114180"],"alias_name":["prepro-calmodulin 1","phosphorylase kinase subunit delta"],"gene_symbol":"CALM1","hgnc_symbol":"CALM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:90862846-90874605","ensembl_id":"ENSG00000198668"}},"GRch38":{"90":{"location":"14:90396502-90408261","ensembl_id":"ENSG00000198668"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"CALM1","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916"],"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":[]},{"gene_data":{"alias":["PHKD","CAMII"],"biotype":"protein_coding","hgnc_id":"HGNC:1445","gene_name":"calmodulin 2","omim_gene":["114182"],"alias_name":["prepro-calmodulin 2","phosphorylase kinase subunit delta"],"gene_symbol":"CALM2","hgnc_symbol":"CALM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47387221-47403740","ensembl_id":"ENSG00000143933"}},"GRch38":{"90":{"location":"2:47160082-47176601","ensembl_id":"ENSG00000143933"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"CALM2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990"],"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":[]},{"gene_data":{"alias":["PHKD"],"biotype":"protein_coding","hgnc_id":"HGNC:1449","gene_name":"calmodulin 3","omim_gene":["114183"],"alias_name":["prepro-calmodulin 3","phosphorylase kinase subunit delta"],"gene_symbol":"CALM3","hgnc_symbol":"CALM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47104331-47114050","ensembl_id":"ENSG00000160014"}},"GRch38":{"90":{"location":"19:46601074-46610793","ensembl_id":"ENSG00000160014"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"CALM3","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Long QT syndrome 16, MIM#618782"],"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":[]},{"gene_data":{"alias":["GPSN2L","SRD5A2L2","DKFZp313D0829","DKFZp313B2333","TERL"],"biotype":"protein_coding","hgnc_id":"HGNC:27365","gene_name":"trans-2,3-enoyl-CoA reductase like","omim_gene":["617242"],"alias_name":["glycoprotein, synaptic 2-like"],"gene_symbol":"TECRL","hgnc_symbol":"TECRL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:65140975-65275186","ensembl_id":"ENSG00000205678"}},"GRch38":{"90":{"location":"4:64275257-64409468","ensembl_id":"ENSG00000205678"}}},"hgnc_date_symbol_changed":"2009-07-21"},"entity_type":"gene","entity_name":"TECRL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM#\t614021"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cardiac","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11768","gene_name":"transforming growth factor beta 2","omim_gene":["190220"],"alias_name":["prepro-transforming growth factor beta-2"],"gene_symbol":"TGFB2","hgnc_symbol":"TGFB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:218519577-218617961","ensembl_id":"ENSG00000092969"}},"GRch38":{"90":{"location":"1:218346235-218444619","ensembl_id":"ENSG00000092969"}}},"hgnc_date_symbol_changed":"1989-05-10"},"entity_type":"gene","entity_name":"TGFB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Loeys-Dietz syndrome 4, MIM#\t614816"],"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":[]},{"gene_data":{"alias":["HOGA"],"biotype":"protein_coding","hgnc_id":"HGNC:8091","gene_name":"ornithine aminotransferase","omim_gene":["613349"],"alias_name":["Ornithine aminotransferase","ornithine aminotransferase precursor","gyrate atrophy"],"gene_symbol":"OAT","hgnc_symbol":"OAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:126085872-126107545","ensembl_id":"ENSG00000065154"}},"GRch38":{"90":{"location":"10:124397303-124418976","ensembl_id":"ENSG00000065154"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870"],"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":[]},{"gene_data":{"alias":["Dicer","KIAA0928","K12H4.8-LIKE","HERNA"],"biotype":"protein_coding","hgnc_id":"HGNC:17098","gene_name":"dicer 1, ribonuclease III","omim_gene":["606241"],"alias_name":["dicer 1, double-stranded RNA-specific endoribonuclease"],"gene_symbol":"DICER1","hgnc_symbol":"DICER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:95552565-95624347","ensembl_id":"ENSG00000100697"}},"GRch38":{"90":{"location":"14:95086228-95158010","ensembl_id":"ENSG00000100697"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"DICER1","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["DICER1 syndrome, MONDO:0017288"],"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":[]},{"gene_data":{"alias":["PEBP2A2","AMLCR1"],"biotype":"protein_coding","hgnc_id":"HGNC:10471","gene_name":"runt related transcription factor 1","omim_gene":["151385"],"alias_name":["aml1 oncogene"],"gene_symbol":"RUNX1","hgnc_symbol":"RUNX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:36160098-37376965","ensembl_id":"ENSG00000159216"}},"GRch38":{"90":{"location":"21:34787801-36004667","ensembl_id":"ENSG00000159216"}}},"hgnc_date_symbol_changed":"1991-08-20"},"entity_type":"gene","entity_name":"RUNX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6664","gene_name":"lysyl oxidase","omim_gene":["153455"],"alias_name":null,"gene_symbol":"LOX","hgnc_symbol":"LOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:121398890-121413980","ensembl_id":"ENSG00000113083"}},"GRch38":{"90":{"location":"5:122063195-122078360","ensembl_id":"ENSG00000113083"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LOX","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Aortic aneurysm, familial thoracic 10, MIM#617168"],"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":[]},{"gene_data":{"alias":["PGK","PKG"],"biotype":"protein_coding","hgnc_id":"HGNC:9414","gene_name":"protein kinase, cGMP-dependent, type I","omim_gene":["176894"],"alias_name":null,"gene_symbol":"PRKG1","hgnc_symbol":"PRKG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:52750945-54058110","ensembl_id":"ENSG00000185532"}},"GRch38":{"90":{"location":"10:50991358-52298350","ensembl_id":"ENSG00000185532"}}},"hgnc_date_symbol_changed":"1991-07-17"},"entity_type":"gene","entity_name":"PRKG1","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Aortic aneurysm, familial thoracic 8, MIM#615436"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9679","gene_name":"protein tyrosine phosphatase, receptor type Q","omim_gene":["603317"],"alias_name":null,"gene_symbol":"PTPRQ","hgnc_symbol":"PTPRQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:80799774-81072802","ensembl_id":"ENSG00000139304"}},"GRch38":{"90":{"location":"12:80402178-80680234","ensembl_id":"ENSG00000139304"}}},"hgnc_date_symbol_changed":"1998-03-24"},"entity_type":"gene","entity_name":"PTPRQ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Deafness, autosomal recessive 84A, MIM# 613391","Deafness, autosomal dominant 73, MIM# 617663"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Gpcr13","H218","AGR16"],"biotype":"protein_coding","hgnc_id":"HGNC:3169","gene_name":"sphingosine-1-phosphate receptor 2","omim_gene":["605111"],"alias_name":null,"gene_symbol":"S1PR2","hgnc_symbol":"S1PR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10334520-10341948","ensembl_id":"ENSG00000267534"}},"GRch38":{"90":{"location":"19:10221435-10231272","ensembl_id":"ENSG00000267534"}}},"hgnc_date_symbol_changed":"2008-04-30"},"entity_type":"gene","entity_name":"S1PR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Deafness, autosomal recessive 68, MIM# 610419"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:24063","gene_name":"galactose mutarotase","omim_gene":["137030"],"alias_name":["aldose 1-epimerase","aldose mutarotase","galactomutarotase"],"gene_symbol":"GALM","hgnc_symbol":"GALM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:38893052-38968379","ensembl_id":"ENSG00000143891"}},"GRch38":{"90":{"location":"2:38665910-38741237","ensembl_id":"ENSG00000143891"}}},"hgnc_date_symbol_changed":"2004-01-13"},"entity_type":"gene","entity_name":"GALM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Galactosemia IV MIM#618881"],"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":[]},{"gene_data":{"alias":["JDP1"],"biotype":"protein_coding","hgnc_id":"HGNC:28908","gene_name":"DnaJ heat shock protein family (Hsp40) member C12","omim_gene":["606060"],"alias_name":["J domain protein 1"],"gene_symbol":"DNAJC12","hgnc_symbol":"DNAJC12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69556427-69597924","ensembl_id":"ENSG00000108176"}},"GRch38":{"90":{"location":"10:67796665-67838166","ensembl_id":"ENSG00000108176"}}},"hgnc_date_symbol_changed":"2004-04-15"},"entity_type":"gene","entity_name":"DNAJC12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2861","gene_name":"dihydrofolate reductase","omim_gene":["126060"],"alias_name":null,"gene_symbol":"DHFR","hgnc_symbol":"DHFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:79922047-79950802","ensembl_id":"ENSG00000228716"}},"GRch38":{"90":{"location":"5:80626228-80654983","ensembl_id":"ENSG00000228716"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DHFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839"],"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":[]},{"gene_data":{"alias":["SCEH"],"biotype":"protein_coding","hgnc_id":"HGNC:3151","gene_name":"enoyl-CoA hydratase, short chain 1","omim_gene":["602292"],"alias_name":["short chain enoyl-CoA hydratase"],"gene_symbol":"ECHS1","hgnc_symbol":"ECHS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:135175984-135187193","ensembl_id":"ENSG00000127884"}},"GRch38":{"90":{"location":"10:133362480-133373689","ensembl_id":"ENSG00000127884"}}},"hgnc_date_symbol_changed":"1996-12-17"},"entity_type":"gene","entity_name":"ECHS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32642440"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277"],"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":[]},{"gene_data":{"alias":["MADR2","JV18-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6768","gene_name":"SMAD family member 2","omim_gene":["601366"],"alias_name":null,"gene_symbol":"SMAD2","hgnc_symbol":"SMAD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:45357922-45457515","ensembl_id":"ENSG00000175387"}},"GRch38":{"90":{"location":"18:47808957-47931146","ensembl_id":"ENSG00000175387"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Loeys-Dietz syndrome 6, MIM# 619656"],"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":[]},{"gene_data":{"alias":["LPAAT-beta"],"biotype":"protein_coding","hgnc_id":"HGNC:325","gene_name":"1-acylglycerol-3-phosphate O-acyltransferase 2","omim_gene":["603100"],"alias_name":["lysophosphatidic acid acyltransferase, beta"],"gene_symbol":"AGPAT2","hgnc_symbol":"AGPAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139567595-139581875","ensembl_id":"ENSG00000169692"}},"GRch38":{"90":{"location":"9:136673143-136687423","ensembl_id":"ENSG00000169692"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"AGPAT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29704234"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Lipodystrophy, congenital generalized, type 1, MIM#\t608594"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HIGM2","CDA2","ARP2","AID"],"biotype":"protein_coding","hgnc_id":"HGNC:13203","gene_name":"activation induced cytidine deaminase","omim_gene":["605257"],"alias_name":null,"gene_symbol":"AICDA","hgnc_symbol":"AICDA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:8754762-8765467","ensembl_id":"ENSG00000111732"}},"GRch38":{"90":{"location":"12:8602166-8612871","ensembl_id":"ENSG00000111732"}}},"hgnc_date_symbol_changed":"2000-09-19"},"entity_type":"gene","entity_name":"AICDA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Immunodeficiency with hyper-IgM, type 2, MIM#\t605258"],"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":[]},{"gene_data":{"alias":["HsT18816"],"biotype":"protein_coding","hgnc_id":"HGNC:1371","gene_name":"carbonic anhydrase 12","omim_gene":["603263"],"alias_name":null,"gene_symbol":"CA12","hgnc_symbol":"CA12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:63613577-63674360","ensembl_id":"ENSG00000074410"}},"GRch38":{"90":{"location":"15:63321378-63382161","ensembl_id":"ENSG00000074410"}}},"hgnc_date_symbol_changed":"1998-07-17"},"entity_type":"gene","entity_name":"CA12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hyperchlorhidrosis, isolated MIM#143860"],"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":[]},{"gene_data":{"alias":["GATD4"],"biotype":"protein_coding","hgnc_id":"HGNC:1424","gene_name":"carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase","omim_gene":["114010"],"alias_name":null,"gene_symbol":"CAD","hgnc_symbol":"CAD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27440258-27466811","ensembl_id":"ENSG00000084774"}},"GRch38":{"90":{"location":"2:27217390-27243943","ensembl_id":"ENSG00000084774"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CAD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28007989"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental and epileptic encephalopathy 50, MIM#\t616457"],"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":[]},{"gene_data":{"alias":["DKFZp761P1121"],"biotype":"protein_coding","hgnc_id":"HGNC:25439","gene_name":"transport and golgi organization 2 homolog","omim_gene":["616830"],"alias_name":null,"gene_symbol":"TANGO2","hgnc_symbol":"TANGO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:20004537-20053449","ensembl_id":"ENSG00000183597"}},"GRch38":{"90":{"location":"22:20017014-20065926","ensembl_id":"ENSG00000183597"}}},"hgnc_date_symbol_changed":"2012-12-13"},"entity_type":"gene","entity_name":"TANGO2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878"],"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":["AGAT"],"biotype":"protein_coding","hgnc_id":"HGNC:4175","gene_name":"glycine amidinotransferase","omim_gene":["602360"],"alias_name":["L-arginine:glycine amidinotransferase"],"gene_symbol":"GATM","hgnc_symbol":"GATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45653322-45694525","ensembl_id":"ENSG00000171766"}},"GRch38":{"90":{"location":"15:45361124-45402327","ensembl_id":"ENSG00000171766"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"GATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 20301745, 34972654"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebral creatine deficiency syndrome 3 MIM#612718"],"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:5008","gene_name":"3-hydroxy-3-methylglutaryl-CoA synthase 2","omim_gene":["600234"],"alias_name":null,"gene_symbol":"HMGCS2","hgnc_symbol":"HMGCS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:120290619-120311528","ensembl_id":"ENSG00000134240"}},"GRch38":{"90":{"location":"1:119747996-119768905","ensembl_id":"ENSG00000134240"}}},"hgnc_date_symbol_changed":"1994-05-17"},"entity_type":"gene","entity_name":"HMGCS2","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 32259399, 32470406"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["HMG-CoA synthase-2 deficiency MIM#605911"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","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":["LAS"],"biotype":"protein_coding","hgnc_id":"HGNC:16429","gene_name":"lipoic acid synthetase","omim_gene":["607031"],"alias_name":null,"gene_symbol":"LIAS","hgnc_symbol":"LIAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39460620-39479273","ensembl_id":"ENSG00000121897"}},"GRch38":{"90":{"location":"4:39458587-39485109","ensembl_id":"ENSG00000121897"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"LIAS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24334290","24777537"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Hyperglycinemia, lactic acidosis, and seizures MIM#614462"],"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":["PUNP"],"biotype":"protein_coding","hgnc_id":"HGNC:7892","gene_name":"purine nucleoside phosphorylase","omim_gene":["164050"],"alias_name":null,"gene_symbol":"PNP","hgnc_symbol":"PNP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:20937113-20945253","ensembl_id":"ENSG00000198805"}},"GRch38":{"90":{"location":"14:20468954-20477094","ensembl_id":"ENSG00000198805"}}},"hgnc_date_symbol_changed":"2009-12-02"},"entity_type":"gene","entity_name":"PNP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35968787, PMID: 35063692, PMID: 30885031, PMID: 1931007, PMID: 28674683"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179"],"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":["NKEFA"],"biotype":"protein_coding","hgnc_id":"HGNC:9352","gene_name":"peroxiredoxin 1","omim_gene":["176763"],"alias_name":null,"gene_symbol":"PRDX1","hgnc_symbol":"PRDX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45976708-45988719","ensembl_id":"ENSG00000117450"}},"GRch38":{"90":{"location":"1:45511036-45523047","ensembl_id":"ENSG00000117450"}}},"hgnc_date_symbol_changed":"1993-11-01"},"entity_type":"gene","entity_name":"PRDX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 20301503, PMID: 29396438, PMID: 34215320, PMID: 33982424"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400"],"mode_of_inheritance":"Other","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1527","gene_name":"caveolin 1","omim_gene":["601047"],"alias_name":null,"gene_symbol":"CAV1","hgnc_symbol":"CAV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:116164839-116201233","ensembl_id":"ENSG00000105974"}},"GRch38":{"90":{"location":"7:116524785-116561184","ensembl_id":"ENSG00000105974"}}},"hgnc_date_symbol_changed":"1993-11-02"},"entity_type":"gene","entity_name":"CAV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29704234"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Lipodystrophy, congenital generalized, type 3, MIM#\t612526"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1633","gene_name":"CD19 molecule","omim_gene":["107265"],"alias_name":null,"gene_symbol":"CD19","hgnc_symbol":"CD19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28943260-28950667","ensembl_id":"ENSG00000177455"}},"GRch38":{"90":{"location":"16:28931939-28939346","ensembl_id":"ENSG00000177455"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"CD19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency, common variable, 3, MIM#\t613493"],"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":[]},{"gene_data":{"alias":["CD3H","CD3Q"],"biotype":"protein_coding","hgnc_id":"HGNC:1677","gene_name":"CD247 molecule","omim_gene":["186780"],"alias_name":null,"gene_symbol":"CD247","hgnc_symbol":"CD247","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:167399877-167487847","ensembl_id":"ENSG00000198821"}},"GRch38":{"90":{"location":"1:167430640-167518610","ensembl_id":"ENSG00000198821"}}},"hgnc_date_symbol_changed":"2006-03-09"},"entity_type":"gene","entity_name":"CD247","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16672702","17170122"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Immunodeficiency 25, MIM# 610163"],"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":[]},{"gene_data":{"alias":["S152","Tp55"],"biotype":"protein_coding","hgnc_id":"HGNC:11922","gene_name":"CD27 molecule","omim_gene":["186711"],"alias_name":null,"gene_symbol":"CD27","hgnc_symbol":"CD27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6554033-6560884","ensembl_id":"ENSG00000139193"}},"GRch38":{"90":{"location":"12:6444867-6451718","ensembl_id":"ENSG00000139193"}}},"hgnc_date_symbol_changed":"2006-10-27"},"entity_type":"gene","entity_name":"CD27","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22197273","22801960","22365582","25843314","11062504"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["CD27-deficiency MIM# 615122"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1675","gene_name":"CD3g molecule","omim_gene":["186740"],"alias_name":null,"gene_symbol":"CD3G","hgnc_symbol":"CD3G","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118215059-118225876","ensembl_id":"ENSG00000160654"}},"GRch38":{"90":{"location":"11:118344344-118355161","ensembl_id":"ENSG00000160654"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"CD3G","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31921117"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 17","CD3 gamma deficient MIM# 615607"],"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":[]},{"gene_data":{"alias":["p50","Bp50"],"biotype":"protein_coding","hgnc_id":"HGNC:11919","gene_name":"CD40 molecule","omim_gene":["109535"],"alias_name":null,"gene_symbol":"CD40","hgnc_symbol":"CD40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44746911-44758502","ensembl_id":"ENSG00000101017"}},"GRch38":{"90":{"location":"20:46118272-46129863","ensembl_id":"ENSG00000101017"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29884852"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency with hyper-IgM, type 3, MIM#\t606843"],"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":[]},{"gene_data":{"alias":["CR","TC","CROM"],"biotype":"protein_coding","hgnc_id":"HGNC:2665","gene_name":"CD55 molecule (Cromer blood group)","omim_gene":["125240"],"alias_name":null,"gene_symbol":"CD55","hgnc_symbol":"CD55","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:207494853-207534311","ensembl_id":"ENSG00000196352"}},"GRch38":{"90":{"location":"1:207321508-207386804","ensembl_id":"ENSG00000196352"}}},"hgnc_date_symbol_changed":"2006-02-23"},"entity_type":"gene","entity_name":"CD55","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33398182"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300"],"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":[]},{"gene_data":{"alias":["CD27L"],"biotype":"protein_coding","hgnc_id":"HGNC:11937","gene_name":"CD70 molecule","omim_gene":["602840"],"alias_name":null,"gene_symbol":"CD70","hgnc_symbol":"CD70","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6583194-6604114","ensembl_id":"ENSG00000125726"}},"GRch38":{"90":{"location":"19:6583183-6604103","ensembl_id":"ENSG00000125726"}}},"hgnc_date_symbol_changed":"2006-10-27"},"entity_type":"gene","entity_name":"CD70","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Lymphoproliferative syndrome 3, MIM# 618261"],"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":[]},{"gene_data":{"alias":["TAPA-1","TSPAN28"],"biotype":"protein_coding","hgnc_id":"HGNC:1701","gene_name":"CD81 molecule","omim_gene":["186845"],"alias_name":null,"gene_symbol":"CD81","hgnc_symbol":"CD81","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2397407-2418649","ensembl_id":"ENSG00000110651"}},"GRch38":{"90":{"location":"11:2376177-2397419","ensembl_id":"ENSG00000110651"}}},"hgnc_date_symbol_changed":"1992-10-21"},"entity_type":"gene","entity_name":"CD81","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["20237408"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Immunodeficiency, common variable, 6, MIM# 613496"],"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":[]},{"gene_data":{"alias":["FLJ14736","JPO1"],"biotype":"protein_coding","hgnc_id":"HGNC:14628","gene_name":"cell division cycle associated 7","omim_gene":["609937"],"alias_name":null,"gene_symbol":"CDCA7","hgnc_symbol":"CDCA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:174219548-174233725","ensembl_id":"ENSG00000144354"}},"GRch38":{"90":{"location":"2:173354820-173368997","ensembl_id":"ENSG00000144354"}}},"hgnc_date_symbol_changed":"2002-04-03"},"entity_type":"gene","entity_name":"CDCA7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26216346"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910"],"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":[]},{"gene_data":{"alias":["HCORO1","p57","coronin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2252","gene_name":"coronin 1A","omim_gene":["605000"],"alias_name":["Clabp TACO"],"gene_symbol":"CORO1A","hgnc_symbol":"CORO1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30194148-30200397","ensembl_id":"ENSG00000102879"}},"GRch38":{"90":{"location":"16:30182827-30189076","ensembl_id":"ENSG00000102879"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"CORO1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 8 MIM# 615401"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological","technically challenging"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FRRS2","CYB561A1"],"biotype":"protein_coding","hgnc_id":"HGNC:2571","gene_name":"cytochrome b561","omim_gene":["600019"],"alias_name":["ferric-chelate reductase 2","cytochrome b561 family, member A1"],"gene_symbol":"CYB561","hgnc_symbol":"CYB561","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61509665-61523739","ensembl_id":"ENSG00000008283"}},"GRch38":{"90":{"location":"17:63432304-63446378","ensembl_id":"ENSG00000008283"}}},"hgnc_date_symbol_changed":"1993-10-14"},"entity_type":"gene","entity_name":"CYB561","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29343526","31822578"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Orthostatic hypotension 2, MIM#\t618182"],"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":[]},{"gene_data":{"alias":["MGC4368","FLJ90469"],"biotype":"protein_coding","hgnc_id":"HGNC:28672","gene_name":"chromosome 17 open reading frame 62","omim_gene":null,"alias_name":null,"gene_symbol":"C17orf62","hgnc_symbol":"C17orf62","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:80400465-80408705","ensembl_id":"ENSG00000178927"}},"GRch38":{"90":{"location":"17:82442589-82450829","ensembl_id":"ENSG00000178927"}}},"hgnc_date_symbol_changed":"2005-12-16"},"entity_type":"gene","entity_name":"C17orf62","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30361506","30312704","28351984"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Chronic granulomatous disease 5, autosomal recessive, MIM# 618935"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:20580","gene_name":"cytochrome P450 family 2 subfamily R member 1","omim_gene":["608713"],"alias_name":null,"gene_symbol":"CYP2R1","hgnc_symbol":"CYP2R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:14899553-14913798","ensembl_id":"ENSG00000186104"}},"GRch38":{"90":{"location":"11:14877440-14892252","ensembl_id":"ENSG00000186104"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"CYP2R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15128933","28548312"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081"],"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":[]},{"gene_data":{"alias":["GS3","DNAJA5","JJJ1"],"biotype":"protein_coding","hgnc_id":"HGNC:27030","gene_name":"DnaJ heat shock protein family (Hsp40) member C21","omim_gene":["617048"],"alias_name":["JJJ1 DnaJ domain protein homolog (S. cerevisiae)"],"gene_symbol":"DNAJC21","hgnc_symbol":"DNAJC21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:34929698-34959069","ensembl_id":"ENSG00000168724"}},"GRch38":{"90":{"location":"5:34929593-34958964","ensembl_id":"ENSG00000168724"}}},"hgnc_date_symbol_changed":"2007-11-19"},"entity_type":"gene","entity_name":"DNAJC21","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29700810","28062395","27346687"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Bone marrow failure syndrome 3, MIM#\t617052"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2960","gene_name":"deoxyribonuclease 2, lysosomal","omim_gene":["126350"],"alias_name":null,"gene_symbol":"DNASE2","hgnc_symbol":"DNASE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12986025-12992282","ensembl_id":"ENSG00000105612"}},"GRch38":{"90":{"location":"19:12875211-12881468","ensembl_id":"ENSG00000105612"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DNASE2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29259162","31775019"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Autoinflammatory-pancytopenia syndrome, MIM# 619858"],"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":[]},{"gene_data":{"alias":["KIAA0209"],"biotype":"protein_coding","hgnc_id":"HGNC:2988","gene_name":"dedicator of cytokinesis 2","omim_gene":["603122"],"alias_name":null,"gene_symbol":"DOCK2","hgnc_symbol":"DOCK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:169064251-169510386","ensembl_id":"ENSG00000134516"}},"GRch38":{"90":{"location":"5:169637247-170083382","ensembl_id":"ENSG00000134516"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"DOCK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26083206","29204803","33928462","30826364","30838481","11518968"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Immunodeficiency 40 MIM# 616433"],"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":[]},{"gene_data":{"alias":["FLJ37706","RAD26L"],"biotype":"protein_coding","hgnc_id":"HGNC:26922","gene_name":"ERCC excision repair 6 like 2","omim_gene":["615667"],"alias_name":null,"gene_symbol":"ERCC6L2","hgnc_symbol":"ERCC6L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:98637983-98776842","ensembl_id":"ENSG00000182150"}},"GRch38":{"90":{"location":"9:95875701-96014571","ensembl_id":"ENSG00000182150"}}},"hgnc_date_symbol_changed":"2012-03-30"},"entity_type":"gene","entity_name":"ERCC6L2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["24507776","27185855"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Bone marrow failure syndrome 2, MIM#\t615715"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22794","KIAA1895"],"biotype":"protein_coding","hgnc_id":"HGNC:24725","gene_name":"family with sequence similarity 111 member A","omim_gene":["615292"],"alias_name":null,"gene_symbol":"FAM111A","hgnc_symbol":"FAM111A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:58910221-58922512","ensembl_id":"ENSG00000166801"}},"GRch38":{"90":{"location":"11:59142748-59155039","ensembl_id":"ENSG00000166801"}}},"hgnc_date_symbol_changed":"2006-02-06"},"entity_type":"gene","entity_name":"FAM111A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Kenny-Caffey syndrome, type 2, MIM# 127000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0290"],"biotype":"protein_coding","hgnc_id":"HGNC:29002","gene_name":"FCH domain only 1","omim_gene":["613437"],"alias_name":null,"gene_symbol":"FCHO1","hgnc_symbol":"FCHO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17858527-17899377","ensembl_id":"ENSG00000130475"}},"GRch38":{"90":{"location":"19:17747718-17788568","ensembl_id":"ENSG00000130475"}}},"hgnc_date_symbol_changed":"2004-01-08"},"entity_type":"gene","entity_name":"FCHO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32098969","30822429"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 76, MIM# 619164"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3791","gene_name":"folate receptor 1","omim_gene":["136430"],"alias_name":["folate receptor alpha"],"gene_symbol":"FOLR1","hgnc_symbol":"FOLR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71900602-71907345","ensembl_id":"ENSG00000110195"}},"GRch38":{"90":{"location":"11:72189558-72196323","ensembl_id":"ENSG00000110195"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"FOLR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19732866","30420205","27743887"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068"],"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":[]},{"gene_data":{"alias":["SBF","pHZ-1","STAF"],"biotype":"protein_coding","hgnc_id":"HGNC:12928","gene_name":"zinc finger protein 143","omim_gene":["603433"],"alias_name":null,"gene_symbol":"ZNF143","hgnc_symbol":"ZNF143","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:9481866-9550071","ensembl_id":"ENSG00000166478"}},"GRch38":{"90":{"location":"11:9460319-9528524","ensembl_id":"ENSG00000166478"}}},"hgnc_date_symbol_changed":"1993-06-07"},"entity_type":"gene","entity_name":"ZNF143","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 20301503, PMID: 27349184"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Combined methylmalonic acidemia and homocystinuria, cblX like 1"],"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":["KIAA0441","BIF1","PATZ2"],"biotype":"protein_coding","hgnc_id":"HGNC:21143","gene_name":"zinc finger and BTB domain containing 24","omim_gene":["614064"],"alias_name":["POZ (BTB) and AT hook containing zinc finger 2"],"gene_symbol":"ZBTB24","hgnc_symbol":"ZBTB24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:109783797-109804440","ensembl_id":"ENSG00000112365"}},"GRch38":{"90":{"location":"6:109462594-109483237","ensembl_id":"ENSG00000112365"}}},"hgnc_date_symbol_changed":"2004-04-16"},"entity_type":"gene","entity_name":"ZBTB24","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28128455,  21906047, 21596365, 23486536"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069"],"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:14544","gene_name":"WNK lysine deficient protein kinase 4","omim_gene":["601844"],"alias_name":null,"gene_symbol":"WNK4","hgnc_symbol":"WNK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40932696-40948954","ensembl_id":"ENSG00000126562"}},"GRch38":{"90":{"location":"17:42780678-42796936","ensembl_id":"ENSG00000126562"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"WNK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 22073419, PMID: 31795491, PMID: 10869238,"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pseudohypoaldosteronism, type IIB MIM#614491"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["WIP"],"biotype":"protein_coding","hgnc_id":"HGNC:12736","gene_name":"WAS/WASL interacting protein family member 1","omim_gene":["602357"],"alias_name":null,"gene_symbol":"WIPF1","hgnc_symbol":"WIPF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:175424300-175547644","ensembl_id":"ENSG00000115935"}},"GRch38":{"90":{"location":"2:174559572-174682916","ensembl_id":"ENSG00000115935"}}},"hgnc_date_symbol_changed":"2006-10-12"},"entity_type":"gene","entity_name":"WIPF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 27742395, PMID: 30450104, PMID: 22231303"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Wiskott-Aldrich syndrome 2 MIM#614493"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological","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":["FLJ38736"],"biotype":"protein_coding","hgnc_id":"HGNC:26790","gene_name":"WD repeat domain 72","omim_gene":["613214"],"alias_name":null,"gene_symbol":"WDR72","hgnc_symbol":"WDR72","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:53805938-54055075","ensembl_id":"ENSG00000166415"}},"GRch38":{"90":{"location":"15:53513741-53762878","ensembl_id":"ENSG00000166415"}}},"hgnc_date_symbol_changed":"2005-05-26"},"entity_type":"gene","entity_name":"WDR72","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30028003, PMID: 30779877, PMID:36836560, PMID: 33033857"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Amelogenesis imperfecta, type IIA3, MIM# 613211","Distal RTA MONDO:0015827"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","renal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12754","gene_name":"WD repeat domain 1","omim_gene":["604734"],"alias_name":null,"gene_symbol":"WDR1","hgnc_symbol":"WDR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:10075963-10118573","ensembl_id":"ENSG00000071127"}},"GRch38":{"90":{"location":"4:10074339-10116949","ensembl_id":"ENSG00000071127"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"WDR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32960541, 27994071, 27557945"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:23663","gene_name":"vitamin K epoxide reductase complex subunit 1","omim_gene":["608547"],"alias_name":null,"gene_symbol":"VKORC1","hgnc_symbol":"VKORC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31102163-31107301","ensembl_id":"ENSG00000167397"}},"GRch38":{"90":{"location":"16:31090842-31095980","ensembl_id":"ENSG00000167397"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"VKORC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:14765194, PMID: 26287237"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12616","gene_name":"ubiquitin specific peptidase 18","omim_gene":["607057"],"alias_name":null,"gene_symbol":"USP18","hgnc_symbol":"USP18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18632666-18660164","ensembl_id":"ENSG00000184979"}},"GRch38":{"90":{"location":"22:18149899-18177397","ensembl_id":"ENSG00000184979"}}},"hgnc_date_symbol_changed":"1999-11-16"},"entity_type":"gene","entity_name":"USP18","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31940699, 27325888, 12833411"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Pseudo-TORCH syndrome 2\tMIM#617397"],"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":["GFI1A","GFI-1"],"biotype":"protein_coding","hgnc_id":"HGNC:4237","gene_name":"growth factor independent 1 transcriptional repressor","omim_gene":["600871"],"alias_name":null,"gene_symbol":"GFI1","hgnc_symbol":"GFI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:92940319-92952433","ensembl_id":"ENSG00000162676"}},"GRch38":{"90":{"location":"1:92474762-92486876","ensembl_id":"ENSG00000162676"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"GFI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12778173","20560965","11810106","22684987"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GH-N","GHN","GH","hGH-N"],"biotype":"protein_coding","hgnc_id":"HGNC:4261","gene_name":"growth hormone 1","omim_gene":["139250"],"alias_name":["pituitary growth hormone","somatotropin"],"gene_symbol":"GH1","hgnc_symbol":"GH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61994560-61996179","ensembl_id":"ENSG00000259384"}},"GRch38":{"90":{"location":"17:63917200-63918838","ensembl_id":"ENSG00000259384"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Growth hormone deficiency, isolated, type IA, MIM# 262400","Growth hormone deficiency, isolated, type II, MIM# 173100","Kowarski syndrome, MIM# 262650"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GHBP"],"biotype":"protein_coding","hgnc_id":"HGNC:4263","gene_name":"growth hormone receptor","omim_gene":["600946"],"alias_name":["growth hormone binding protein"],"gene_symbol":"GHR","hgnc_symbol":"GHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:42423879-42721979","ensembl_id":"ENSG00000112964"}},"GRch38":{"90":{"location":"5:42423777-42721878","ensembl_id":"ENSG00000112964"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"GHR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Growth hormone insensitivity, partial, MIM# 604271","Laron dwarfism, MIM# 262500"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4266","gene_name":"growth hormone releasing hormone receptor","omim_gene":["139191"],"alias_name":null,"gene_symbol":"GHRHR","hgnc_symbol":"GHRHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:30978284-31032869","ensembl_id":"ENSG00000106128"}},"GRch38":{"90":{"location":"7:30938669-30993254","ensembl_id":"ENSG00000106128"}}},"hgnc_date_symbol_changed":"1993-06-22"},"entity_type":"gene","entity_name":"GHRHR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8528260","10084571","11232012"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Growth hormone deficiency, isolated, type IV, MIM# 618157"],"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":[]},{"gene_data":{"alias":["LOC338328","GPI-HBP1"],"biotype":null,"hgnc_id":"HGNC:24945","gene_name":"glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1","omim_gene":["612757"],"alias_name":["endothelial cell LPL transporter"],"gene_symbol":"GPIHBP1","hgnc_symbol":"GPIHBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:144295068-144299044","ensembl_id":"ENSG00000182851"}},"GRch38":{"90":{"location":"8:143213193-143217170","ensembl_id":"ENSG00000277494"}}},"hgnc_date_symbol_changed":"2008-02-07"},"entity_type":"gene","entity_name":"GPIHBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31390500"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hyperlipoproteinemia, type 1D MIM#615947","familial chylomicronemia syndrome"],"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":[]},{"gene_data":{"alias":["PASG","SMARCA6","LSH","Nbla10143"],"biotype":"protein_coding","hgnc_id":"HGNC:4861","gene_name":"helicase, lymphoid specific","omim_gene":["603946"],"alias_name":["SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6","proliferation-associated SNF2-like protein"],"gene_symbol":"HELLS","hgnc_symbol":"HELLS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:96305547-96373662","ensembl_id":"ENSG00000119969"}},"GRch38":{"90":{"location":"10:94501434-94613905","ensembl_id":"ENSG00000119969"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"HELLS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911"],"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":[]},{"gene_data":{"alias":["UDG","UNG1","UNG2","HIGM4"],"biotype":"protein_coding","hgnc_id":"HGNC:12572","gene_name":"uracil DNA glycosylase","omim_gene":["191525"],"alias_name":["uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"],"gene_symbol":"UNG","hgnc_symbol":"UNG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:109535379-109548797","ensembl_id":"ENSG00000076248"}},"GRch38":{"90":{"location":"12:109097574-109110992","ensembl_id":"ENSG00000076248"}}},"hgnc_date_symbol_changed":"1990-02-22"},"entity_type":"gene","entity_name":"UNG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 12958596, PMID: 15967827, PMID: 19202054, PMID: 16860315"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency with hyper IgM, type 5 MIM#608106"],"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}]}