{"count":35518,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=336","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=334","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12563","gene_name":"uridine monophosphate synthetase","omim_gene":["613891"],"alias_name":["orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"],"gene_symbol":"UMPS","hgnc_symbol":"UMPS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:124449213-124464040","ensembl_id":"ENSG00000114491"}},"GRch38":{"90":{"location":"3:124730366-124749273","ensembl_id":"ENSG00000114491"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"UMPS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 9042911, PMID: 28205048, PMID: 25757096, PMID: 33489760"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Orotic aciduria\tMIM#258900"],"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":["FLJ37472","DHDPS2","NPL2"],"biotype":"protein_coding","hgnc_id":"HGNC:25155","gene_name":"4-hydroxy-2-oxoglutarate aldolase 1","omim_gene":["613597"],"alias_name":["dihydrodipicolinate synthetase homolog 2 (E. coli)","N-acetylneuraminate pyruvate lyase 2 (putative)"],"gene_symbol":"HOGA1","hgnc_symbol":"HOGA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:99344080-99372559","ensembl_id":"ENSG00000241935"}},"GRch38":{"90":{"location":"10:97584323-97612802","ensembl_id":"ENSG00000241935"}}},"hgnc_date_symbol_changed":"2010-12-19"},"entity_type":"gene","entity_name":"HOGA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20797690","21896830","22391140"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hyperoxaluria, primary, type III MIM#613616"],"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; 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additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+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":["CHAK2","FLJ22628"],"biotype":"protein_coding","hgnc_id":"HGNC:17995","gene_name":"transient receptor potential cation channel subfamily M member 6","omim_gene":["607009"],"alias_name":null,"gene_symbol":"TRPM6","hgnc_symbol":"TRPM6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:77337411-77503010","ensembl_id":"ENSG00000119121"}},"GRch38":{"90":{"location":"9:74722495-74888094","ensembl_id":"ENSG00000119121"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"TRPM6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35903165, PMID: 18818955"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypomagnesemia 1, intestinal MIM#602014"],"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":["MtCCA","CGI-47","CCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:17341","gene_name":"tRNA nucleotidyl transferase 1","omim_gene":["612907"],"alias_name":["ATP(CTP):tRNA nucleotidyltransferase","CCA-adding enzyme"],"gene_symbol":"TRNT1","hgnc_symbol":"TRNT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:3168600-3192563","ensembl_id":"ENSG00000072756"}},"GRch38":{"90":{"location":"3:3126916-3150879","ensembl_id":"ENSG00000072756"}}},"hgnc_date_symbol_changed":"2002-05-30"},"entity_type":"gene","entity_name":"TRNT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 25193871, PMID: 23553769, PMID: 33936027, PMID: 26494905"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084"],"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":["HTPK1","PP20"],"biotype":"protein_coding","hgnc_id":"HGNC:17358","gene_name":"thiamin pyrophosphokinase 1","omim_gene":["606370"],"alias_name":["placental protein 20","thiamine pyrophosphokinase 1","thiamine kinase","thiamine diphosphokinase"],"gene_symbol":"TPK1","hgnc_symbol":"TPK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:144149034-144533488","ensembl_id":"ENSG00000196511"}},"GRch38":{"90":{"location":"7:144451941-144836395","ensembl_id":"ENSG00000196511"}}},"hgnc_date_symbol_changed":"2001-12-13"},"entity_type":"gene","entity_name":"TPK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33086386, 32679198, 22152682, PMID: 33231275"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458"],"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:11990","gene_name":"DNA topoisomerase II beta","omim_gene":["126431"],"alias_name":null,"gene_symbol":"TOP2B","hgnc_symbol":"TOP2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:25639475-25706398","ensembl_id":"ENSG00000077097"}},"GRch38":{"90":{"location":"3:25597905-25664907","ensembl_id":"ENSG00000077097"}}},"hgnc_date_symbol_changed":"1992-03-20"},"entity_type":"gene","entity_name":"TOP2B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31409799, PMID: 35063500, PMID: 32128574, PMID: 33459963"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TNF-R","TNFAR","TNFR60","TNF-R-I","CD120a","TNF-R55"],"biotype":"protein_coding","hgnc_id":"HGNC:11916","gene_name":"TNF receptor superfamily member 1A","omim_gene":["191190"],"alias_name":null,"gene_symbol":"TNFRSF1A","hgnc_symbol":"TNFRSF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6437923-6451280","ensembl_id":"ENSG00000067182"}},"GRch38":{"90":{"location":"12:6328757-6342114","ensembl_id":"ENSG00000067182"}}},"hgnc_date_symbol_changed":"1991-01-15"},"entity_type":"gene","entity_name":"TNFRSF1A","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 11175303, PMID: 32066461, PMID: 29773275, PMID: 32831641"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Periodic fever, familial MIM#142680"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ILRS","IARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:5330","gene_name":"isoleucyl-tRNA synthetase","omim_gene":["600709"],"alias_name":["isoleucine tRNA ligase 1, cytoplasmic"],"gene_symbol":"IARS","hgnc_symbol":"IARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94972489-95056038","ensembl_id":"ENSG00000196305"}},"GRch38":{"90":{"location":"9:92210207-92293756","ensembl_id":"ENSG00000196305"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"IARS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27426735","34194004"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093"],"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; 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additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+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":["fragilis4","Hrmp1","BRIL"],"biotype":"protein_coding","hgnc_id":"HGNC:16644","gene_name":"interferon induced transmembrane protein 5","omim_gene":["614757"],"alias_name":null,"gene_symbol":"IFITM5","hgnc_symbol":"IFITM5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:298200-299526","ensembl_id":"ENSG00000206013"}},"GRch38":{"90":{"location":"11:298200-299526","ensembl_id":"ENSG00000206013"}}},"hgnc_date_symbol_changed":"2006-09-21"},"entity_type":"gene","entity_name":"IFITM5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22863190","22863195","32383316","24519609"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteogenesis imperfecta, type V MIM#610967"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["5'UTR","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":["CD119"],"biotype":"protein_coding","hgnc_id":"HGNC:5439","gene_name":"interferon gamma receptor 1","omim_gene":["107470"],"alias_name":null,"gene_symbol":"IFNGR1","hgnc_symbol":"IFNGR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137518621-137540586","ensembl_id":"ENSG00000027697"}},"GRch38":{"90":{"location":"6:137197484-137219449","ensembl_id":"ENSG00000027697"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IFNGR1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950","Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978"],"mode_of_inheritance":"BOTH monoallelic and 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":["AF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:5440","gene_name":"interferon gamma receptor 2","omim_gene":["147569"],"alias_name":null,"gene_symbol":"IFNGR2","hgnc_symbol":"IFNGR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34775202-34851655","ensembl_id":"ENSG00000159128"}},"GRch38":{"90":{"location":"21:33402896-33479348","ensembl_id":"ENSG00000159128"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IFNGR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency 28, mycobacteriosis, MIM# 614889"],"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":["IKK2","NFKBIKB","IKK-beta","IKKB"],"biotype":"protein_coding","hgnc_id":"HGNC:5960","gene_name":"inhibitor of nuclear factor kappa B kinase subunit beta","omim_gene":["603258"],"alias_name":null,"gene_symbol":"IKBKB","hgnc_symbol":"IKBKB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42128820-42189973","ensembl_id":"ENSG00000104365"}},"GRch38":{"90":{"location":"8:42271302-42332653","ensembl_id":"ENSG00000104365"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"IKBKB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 15B, MIM#\t615592"],"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":["hIk-1","LyF-1","Hs.54452","IKAROS","PPP1R92"],"biotype":"protein_coding","hgnc_id":"HGNC:13176","gene_name":"IKAROS family zinc finger 1","omim_gene":["603023"],"alias_name":["protein phosphatase 1, regulatory subunit 92"],"gene_symbol":"IKZF1","hgnc_symbol":"IKZF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50343720-50472799","ensembl_id":"ENSG00000185811"}},"GRch38":{"90":{"location":"7:50304124-50405101","ensembl_id":"ENSG00000185811"}}},"hgnc_date_symbol_changed":"2006-08-25"},"entity_type":"gene","entity_name":"IKZF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency, common variable, 13 MIM# 616873"],"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":["IL1RA","ICIL-1RA","IL1F3","IRAP","IL-1RN","MGC10430"],"biotype":"protein_coding","hgnc_id":"HGNC:6000","gene_name":"interleukin 1 receptor antagonist","omim_gene":["147679"],"alias_name":["interleukin-1 receptor antagonist protein","intracellular interleukin-1 receptor antagonist"],"gene_symbol":"IL1RN","hgnc_symbol":"IL1RN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113864791-113891593","ensembl_id":"ENSG00000136689"}},"GRch38":{"90":{"location":"2:113107214-113134016","ensembl_id":"ENSG00000136689"}}},"hgnc_date_symbol_changed":"1990-11-20"},"entity_type":"gene","entity_name":"IL1RN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Interleukin 1 receptor antagonist deficiency, MIM# 612852"],"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":["CD360"],"biotype":"protein_coding","hgnc_id":"HGNC:6006","gene_name":"interleukin 21 receptor","omim_gene":["605383"],"alias_name":null,"gene_symbol":"IL21R","hgnc_symbol":"IL21R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:27413483-27462115","ensembl_id":"ENSG00000103522"}},"GRch38":{"90":{"location":"16:27402162-27452042","ensembl_id":"ENSG00000103522"}}},"hgnc_date_symbol_changed":"2000-03-29"},"entity_type":"gene","entity_name":"IL21R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 56, MIM# 615207"],"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":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367"],"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":["FIL1","FIL1(DELTA)","FIL1D","IL1HY1","IL1RP3","IL1L1","IL-1F5","IL36RA","MGC29840"],"biotype":"protein_coding","hgnc_id":"HGNC:15561","gene_name":"interleukin 36 receptor antagonist","omim_gene":["605507"],"alias_name":["family of interleukin 1-delta","interleukin-1 receptor antagonist homolog 1","interleukin-1 HY1","IL-1 related protein 3"],"gene_symbol":"IL36RN","hgnc_symbol":"IL36RN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113816215-113822959","ensembl_id":"ENSG00000136695"}},"GRch38":{"90":{"location":"2:113058638-113065382","ensembl_id":"ENSG00000136695"}}},"hgnc_date_symbol_changed":"2011-06-06"},"entity_type":"gene","entity_name":"IL36RN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31286990"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Psoriasis 14, pustular, MIM# 614204"],"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":["BAFFR","CD268"],"biotype":"protein_coding","hgnc_id":"HGNC:17755","gene_name":"TNF receptor superfamily member 13C","omim_gene":["606269"],"alias_name":null,"gene_symbol":"TNFRSF13C","hgnc_symbol":"TNFRSF13C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42321045-42322822","ensembl_id":"ENSG00000159958"}},"GRch38":{"90":{"location":"22:41922023-41926818","ensembl_id":"ENSG00000159958"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"TNFRSF13C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 19666484, PMID: 27250108, PMID: 18025937"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Immunodeficiency, common variable, 4\tMIM#613494"],"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":["PY160","IRS-4"],"biotype":"protein_coding","hgnc_id":"HGNC:6128","gene_name":"insulin receptor substrate 4","omim_gene":["300904"],"alias_name":null,"gene_symbol":"IRS4","hgnc_symbol":"IRS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:107975712-107979651","ensembl_id":"ENSG00000133124"}},"GRch38":{"90":{"location":"X:108732482-108736409","ensembl_id":"ENSG00000133124"}}},"hgnc_date_symbol_changed":"1998-11-24"},"entity_type":"gene","entity_name":"IRS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30061370"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EMT","PSCTK2","LYK"],"biotype":"protein_coding","hgnc_id":"HGNC:6171","gene_name":"IL2 inducible T-cell kinase","omim_gene":["186973"],"alias_name":null,"gene_symbol":"ITK","hgnc_symbol":"ITK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:156569944-156682201","ensembl_id":"ENSG00000113263"}},"GRch38":{"90":{"location":"5:157142933-157255191","ensembl_id":"ENSG00000113263"}}},"hgnc_date_symbol_changed":"1995-12-18"},"entity_type":"gene","entity_name":"ITK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Lymphoproliferative syndrome 1, MIM#\t613011"],"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":["GL009","FLJ14602"],"biotype":"protein_coding","hgnc_id":"HGNC:26926","gene_name":"jagunal homolog 1","omim_gene":["616012"],"alias_name":null,"gene_symbol":"JAGN1","hgnc_symbol":"JAGN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:9932238-9936033","ensembl_id":"ENSG00000171135"}},"GRch38":{"90":{"location":"3:9890554-9894349","ensembl_id":"ENSG00000171135"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"JAGN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25129144"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022"],"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:6553","gene_name":"leptin","omim_gene":["164160"],"alias_name":null,"gene_symbol":"LEP","hgnc_symbol":"LEP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:127881337-127897681","ensembl_id":"ENSG00000174697"}},"GRch38":{"90":{"location":"7:128241284-128257628","ensembl_id":"ENSG00000174697"}}},"hgnc_date_symbol_changed":"1993-01-26"},"entity_type":"gene","entity_name":"LEP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26567097"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Obesity, morbid, due to leptin deficiency (MIM#614962)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6598","gene_name":"DNA ligase 1","omim_gene":["126391"],"alias_name":null,"gene_symbol":"LIG1","hgnc_symbol":"LIG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:48618702-48673860","ensembl_id":"ENSG00000105486"}},"GRch38":{"90":{"location":"19:48115445-48170603","ensembl_id":"ENSG00000105486"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"LIG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30395541"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 96, MIM#\t619774"],"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":["BGL","LAB300","LBA"],"biotype":"protein_coding","hgnc_id":"HGNC:1742","gene_name":"LPS responsive beige-like anchor protein","omim_gene":["606453"],"alias_name":null,"gene_symbol":"LRBA","hgnc_symbol":"LRBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:151185594-151936879","ensembl_id":"ENSG00000198589"}},"GRch38":{"90":{"location":"4:150264531-151015727","ensembl_id":"ENSG00000198589"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"LRBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22608502","22721650","25468195","26206937","33155142","31887391"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700"],"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":["DKFZp564K142","IAP","OST3B","MRX95"],"biotype":"protein_coding","hgnc_id":"HGNC:28880","gene_name":"magnesium transporter 1","omim_gene":["300715"],"alias_name":["oligosaccharyltransferase 3 homolog B (S. cerevisiae)"],"gene_symbol":"MAGT1","hgnc_symbol":"MAGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77081861-77151090","ensembl_id":"ENSG00000102158"}},"GRch38":{"90":{"location":"X:77826364-77895593","ensembl_id":"ENSG00000102158"}}},"hgnc_date_symbol_changed":"2008-01-18"},"entity_type":"gene","entity_name":"MAGT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036665","31714901"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PCASP1"],"biotype":"protein_coding","hgnc_id":"HGNC:6819","gene_name":"MALT1 paracaspase","omim_gene":["604860"],"alias_name":["MALT1 protease","paracaspase 1"],"gene_symbol":"MALT1","hgnc_symbol":"MALT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56338618-56417371","ensembl_id":"ENSG00000172175"}},"GRch38":{"90":{"location":"18:58671386-58754477","ensembl_id":"ENSG00000172175"}}},"hgnc_date_symbol_changed":"1999-08-02"},"entity_type":"gene","entity_name":"MALT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 12 MIM# 615468"],"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":["HB9","HOXHB9","SCRA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4979","gene_name":"motor neuron and pancreas homeobox 1","omim_gene":["142994"],"alias_name":null,"gene_symbol":"MNX1","hgnc_symbol":"MNX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:156786745-156803345","ensembl_id":"ENSG00000130675"}},"GRch38":{"90":{"location":"7:156994051-157010651","ensembl_id":"ENSG00000130675"}}},"hgnc_date_symbol_changed":"2007-08-09"},"entity_type":"gene","entity_name":"MNX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36586106"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7432","gene_name":"methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1","omim_gene":["172460"],"alias_name":null,"gene_symbol":"MTHFD1","hgnc_symbol":"MTHFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:64854749-64926722","ensembl_id":"ENSG00000100714"}},"GRch38":{"90":{"location":"14:64388031-64463457","ensembl_id":"ENSG00000100714"}}},"hgnc_date_symbol_changed":"1999-07-23"},"entity_type":"gene","entity_name":"MTHFD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32414565","19033438"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780"],"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":[]},{"gene_data":{"alias":["HsT19268"],"biotype":"protein_coding","hgnc_id":"HGNC:7437","gene_name":"methenyltetrahydrofolate synthetase","omim_gene":["604197"],"alias_name":["5,10-methenyltetrahydrofolate synthetase","5-formyltetrahydrofolate cyclo-ligase"],"gene_symbol":"MTHFS","hgnc_symbol":"MTHFS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:80125927-80189721","ensembl_id":"ENSG00000136371"}},"GRch38":{"90":{"location":"15:79833585-79897379","ensembl_id":"ENSG00000136371"}}},"hgnc_date_symbol_changed":"1999-07-09"},"entity_type":"gene","entity_name":"MTHFS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30031689","31844630","22303332"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7562","gene_name":"myeloid differentiation primary response 88","omim_gene":["602170"],"alias_name":null,"gene_symbol":"MYD88","hgnc_symbol":"MYD88","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38179969-38184513","ensembl_id":"ENSG00000172936"}},"GRch38":{"90":{"location":"3:38138478-38143022","ensembl_id":"ENSG00000172936"}}},"hgnc_date_symbol_changed":"1997-12-23"},"entity_type":"gene","entity_name":"MYD88","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18669862","20538326","31301515"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 68, MIM# 612260"],"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":["LP3298","FLJ10769"],"biotype":"protein_coding","hgnc_id":"HGNC:25576","gene_name":"NAD(P)HX dehydratase","omim_gene":["615910"],"alias_name":["ATP-dependent NAD(P)H-hydrate dehydratase"],"gene_symbol":"NAXD","hgnc_symbol":"NAXD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:111267881-111292340","ensembl_id":"ENSG00000213995"}},"GRch38":{"90":{"location":"13:110615460-110639993","ensembl_id":"ENSG00000213995"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXD","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30576410","31755961","32462209","35231119"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321"],"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":["AIBP","MGC119143","MGC119144","MGC119145","YJEFN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18453","gene_name":"NAD(P)HX epimerase","omim_gene":["608862"],"alias_name":["apoA-I binding protein","NAD(P)H-hydrate epimerase"],"gene_symbol":"NAXE","hgnc_symbol":"NAXE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156561554-156564091","ensembl_id":"ENSG00000163382"}},"GRch38":{"90":{"location":"1:156591762-156594299","ensembl_id":"ENSG00000163382"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27122014","27616477","31758406"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186"],"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":["IKBA","MAD-3","IkappaBalpha"],"biotype":"protein_coding","hgnc_id":"HGNC:7797","gene_name":"NFKB inhibitor alpha","omim_gene":["164008"],"alias_name":["NF-kappa-B inhibitor alpha"],"gene_symbol":"NFKBIA","hgnc_symbol":"NFKBIA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:35870717-35873955","ensembl_id":"ENSG00000100906"}},"GRch38":{"90":{"location":"14:35401511-35404749","ensembl_id":"ENSG00000100906"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"NFKBIA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ectodermal dysplasia and immunodeficiency 2 MIM# 612132"],"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":["OIASI","IFI-4"],"biotype":"protein_coding","hgnc_id":"HGNC:8086","gene_name":"2'-5'-oligoadenylate synthetase 1","omim_gene":["164350"],"alias_name":null,"gene_symbol":"OAS1","hgnc_symbol":"OAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113344582-113369990","ensembl_id":"ENSG00000089127"}},"GRch38":{"90":{"location":"12:112906777-112933222","ensembl_id":"ENSG00000089127"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34145065","29455859"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042"],"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":["FLJ34884"],"biotype":"protein_coding","hgnc_id":"HGNC:25118","gene_name":"OTU deubiquitinase with linear linkage specificity","omim_gene":["615712"],"alias_name":["gumby"],"gene_symbol":"OTULIN","hgnc_symbol":"OTULIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14664773-14699820","ensembl_id":"ENSG00000154124"}},"GRch38":{"90":{"location":"5:14664664-14699711","ensembl_id":"ENSG00000154124"}}},"hgnc_date_symbol_changed":"2014-03-11"},"entity_type":"gene","entity_name":"OTULIN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099"],"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":["T-plastin"],"biotype":"protein_coding","hgnc_id":"HGNC:9091","gene_name":"plastin 3","omim_gene":["300131"],"alias_name":null,"gene_symbol":"PLS3","hgnc_symbol":"PLS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:114795501-114885181","ensembl_id":"ENSG00000102024"}},"GRch38":{"90":{"location":"X:115561174-115650861","ensembl_id":"ENSG00000102024"}}},"hgnc_date_symbol_changed":"1997-08-18"},"entity_type":"gene","entity_name":"PLS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32655496","25209159","29736964","29884797","28777485","24088043"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Bone mineral density QTL18, osteoporosis - MIM#300910"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["EN-7"],"biotype":"protein_coding","hgnc_id":"HGNC:9802","gene_name":"Rac family small GTPase 2","omim_gene":["602049"],"alias_name":null,"gene_symbol":"RAC2","hgnc_symbol":"RAC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37621301-37640488","ensembl_id":"ENSG00000128340"}},"GRch38":{"90":{"location":"22:37225261-37244448","ensembl_id":"ENSG00000128340"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"RAC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986"],"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":["CalDAG-GEFII","RASGRP"],"biotype":"protein_coding","hgnc_id":"HGNC:9878","gene_name":"RAS guanyl releasing protein 1","omim_gene":["603962"],"alias_name":["calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II"],"gene_symbol":"RASGRP1","hgnc_symbol":"RASGRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:38780304-38857776","ensembl_id":"ENSG00000172575"}},"GRch38":{"90":{"location":"15:38488103-38565575","ensembl_id":"ENSG00000172575"}}},"hgnc_date_symbol_changed":"1999-06-02"},"entity_type":"gene","entity_name":"RASGRP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 64 (MIM#618534)"],"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":["KIAA1839","FLJ20008","RBM40","SNRNP65"],"biotype":"protein_coding","hgnc_id":"HGNC:18666","gene_name":"RNA binding region (RNP1, RRM) containing 3","omim_gene":null,"alias_name":["U11/U12 snRNP 65K"],"gene_symbol":"RNPC3","hgnc_symbol":"RNPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:104068313-104097861","ensembl_id":"ENSG00000185946"}},"GRch38":{"90":{"location":"1:103525691-103555239","ensembl_id":"ENSG00000185946"}}},"hgnc_date_symbol_changed":"2002-09-17"},"entity_type":"gene","entity_name":"RNPC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29866761","32462814","33650182"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160"],"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":["A20","OTUD7C"],"biotype":"protein_coding","hgnc_id":"HGNC:11896","gene_name":"TNF alpha induced protein 3","omim_gene":["191163"],"alias_name":null,"gene_symbol":"TNFAIP3","hgnc_symbol":"TNFAIP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:138188351-138204449","ensembl_id":"ENSG00000118503"}},"GRch38":{"90":{"location":"6:137867188-137883312","ensembl_id":"ENSG00000118503"}}},"hgnc_date_symbol_changed":"1992-10-20"},"entity_type":"gene","entity_name":"TNFAIP3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31587140, PMID: 33101300"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TACI","CD267","IGAD2"],"biotype":"protein_coding","hgnc_id":"HGNC:18153","gene_name":"TNF receptor superfamily member 13B","omim_gene":["604907"],"alias_name":null,"gene_symbol":"TNFRSF13B","hgnc_symbol":"TNFRSF13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:16832849-16875432","ensembl_id":"ENSG00000240505"}},"GRch38":{"90":{"location":"17:16929816-16972118","ensembl_id":"ENSG00000240505"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"TNFRSF13B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31681716, PMID: 18981294"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Immunodeficiency, common variable, 2 MIM#240500"],"mode_of_inheritance":"BOTH monoallelic and 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":["TMPT27","TPARL","GDT1"],"biotype":"protein_coding","hgnc_id":"HGNC:30760","gene_name":"transmembrane protein 165","omim_gene":["614726"],"alias_name":["TPA regulated locus"],"gene_symbol":"TMEM165","hgnc_symbol":"TMEM165","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:56262124-56319564","ensembl_id":"ENSG00000134851"}},"GRch38":{"90":{"location":"4:55395957-55453397","ensembl_id":"ENSG00000134851"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"TMEM165","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28323990, PMID: 35693943, PMID: 22683087"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Congenital disorder of glycosylation, type IIk MIM#614727"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HRIHFB2206","CTG-B45d","CTG-B43a"],"biotype":"protein_coding","hgnc_id":"HGNC:23194","gene_name":"THAP domain containing 11","omim_gene":["609119"],"alias_name":null,"gene_symbol":"THAP11","hgnc_symbol":"THAP11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67876213-67878097","ensembl_id":"ENSG00000168286"}},"GRch38":{"90":{"location":"16:67842082-67844195","ensembl_id":"ENSG00000168286"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"THAP11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28449119, PMID: 31905202"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Methylmalonic aciduria, cblC type-like, MIM# 620940","Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related"],"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":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31306780"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["MIRAGE syndrome, MIM#\t617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","endocrine","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":["KIAA2005","FLJ39885"],"biotype":"protein_coding","hgnc_id":"HGNC:1349","gene_name":"sterile alpha motif domain containing 9 like","omim_gene":["611170"],"alias_name":null,"gene_symbol":"SAMD9L","hgnc_symbol":"SAMD9L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92759368-92777682","ensembl_id":"ENSG00000177409"}},"GRch38":{"90":{"location":"7:93130055-93148369","ensembl_id":"ENSG00000177409"}}},"hgnc_date_symbol_changed":"2005-04-26"},"entity_type":"gene","entity_name":"SAMD9L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31306780"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ataxia-pancytopenia syndrome, MIM# 159550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10535","gene_name":"secretion associated Ras related GTPase 1B","omim_gene":["607690"],"alias_name":null,"gene_symbol":"SAR1B","hgnc_symbol":"SAR1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:133936834-133984961","ensembl_id":"ENSG00000152700"}},"GRch38":{"90":{"location":"5:134601144-134649271","ensembl_id":"ENSG00000152700"}}},"hgnc_date_symbol_changed":"2005-10-21"},"entity_type":"gene","entity_name":"SAR1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Chylomicron retention disease, MIM# 246700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","gastrointestinal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PRO1557","PRO2086"],"biotype":"protein_coding","hgnc_id":"HGNC:11740","gene_name":"transferrin","omim_gene":["190000"],"alias_name":null,"gene_symbol":"TF","hgnc_symbol":"TF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:133464800-133497850","ensembl_id":"ENSG00000091513"}},"GRch38":{"90":{"location":"3:133745956-133779006","ensembl_id":"ENSG00000091513"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32028041, PMID: 19579082, PMID: 11110675"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Atransferrinemia MIM#209300"],"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":["EBI"],"biotype":"protein_coding","hgnc_id":"HGNC:11585","gene_name":"transducin beta like 1 X-linked","omim_gene":["300196"],"alias_name":null,"gene_symbol":"TBL1X","hgnc_symbol":"TBL1X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:9431335-9687780","ensembl_id":"ENSG00000101849"}},"GRch38":{"90":{"location":"X:9463295-9719743","ensembl_id":"ENSG00000101849"}}},"hgnc_date_symbol_changed":"2002-05-24"},"entity_type":"gene","entity_name":"TBL1X","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 27603907"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypothyroidism, congenital, nongoitrous, 8 MIM#301033"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11510","gene_name":"synaptotagmin 2","omim_gene":["600104"],"alias_name":null,"gene_symbol":"SYT2","hgnc_symbol":"SYT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:202559724-202679545","ensembl_id":"ENSG00000143858"}},"GRch38":{"90":{"location":"1:202590596-202710417","ensembl_id":"ENSG00000143858"}}},"hgnc_date_symbol_changed":"1995-09-27"},"entity_type":"gene","entity_name":"SYT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:  32250532, 32776697"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hsyn16","SYN16"],"biotype":"protein_coding","hgnc_id":"HGNC:11431","gene_name":"syntaxin 16","omim_gene":["603666"],"alias_name":null,"gene_symbol":"STX16","hgnc_symbol":"STX16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:57226328-57254582","ensembl_id":"ENSG00000124222"}},"GRch38":{"90":{"location":"20:58651253-58679526","ensembl_id":"ENSG00000124222"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"STX16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33247854, PMID: 34477200, PMID: 29072892"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pseudohypoparathyroidism, type IB MIM#603233"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","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":["MST1","KRS2","YSK3"],"biotype":"protein_coding","hgnc_id":"HGNC:11408","gene_name":"serine/threonine kinase 4","omim_gene":["604965"],"alias_name":["mammalian sterile 20-like 1","yeast Ste20-like","kinase responsive to stress 2"],"gene_symbol":"STK4","hgnc_symbol":"STK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43595115-43708600","ensembl_id":"ENSG00000101109"}},"GRch38":{"90":{"location":"20:44966474-45079959","ensembl_id":"ENSG00000101109"}}},"hgnc_date_symbol_changed":"1997-10-09"},"entity_type":"gene","entity_name":"STK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 22294732"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868"],"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":["GOK","D11S4896E"],"biotype":"protein_coding","hgnc_id":"HGNC:11386","gene_name":"stromal interaction molecule 1","omim_gene":["605921"],"alias_name":null,"gene_symbol":"STIM1","hgnc_symbol":"STIM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:3875757-4114439","ensembl_id":"ENSG00000167323"}},"GRch38":{"90":{"location":"11:3854527-4093210","ensembl_id":"ENSG00000167323"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"STIM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 26469693, PMID: 30949876, PMID: 26560041"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 10 MIM612783"],"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":["STAT91","ISGF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:11362","gene_name":"signal transducer and activator of transcription 1","omim_gene":["600555"],"alias_name":["transcription factor ISGF-3 components p91/p84"],"gene_symbol":"STAT1","hgnc_symbol":"STAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:191829084-191885686","ensembl_id":"ENSG00000115415"}},"GRch38":{"90":{"location":"2:190964358-191020960","ensembl_id":"ENSG00000115415"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31512162, PMID: 27117246"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796"],"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:11199","gene_name":"SRY-box 3","omim_gene":["313430"],"alias_name":null,"gene_symbol":"SOX3","hgnc_symbol":"SOX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:139585152-139587225","ensembl_id":"ENSG00000134595"}},"GRch38":{"90":{"location":"X:140502985-140505116","ensembl_id":"ENSG00000134595"}}},"hgnc_date_symbol_changed":"1993-11-30"},"entity_type":"gene","entity_name":"SOX3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31678974, PMID: 15800844"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Panhypopituitarism, X-linked MIM#312000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["for review","treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11184","gene_name":"sorbitol dehydrogenase","omim_gene":["182500"],"alias_name":null,"gene_symbol":"SORD","hgnc_symbol":"SORD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45315302-45369383","ensembl_id":"ENSG00000140263"}},"GRch38":{"90":{"location":"15:45023104-45077185","ensembl_id":"ENSG00000140263"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SORD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32367058"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912"],"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:14974","gene_name":"sorting nexin 10","omim_gene":["614780"],"alias_name":null,"gene_symbol":"SNX10","hgnc_symbol":"SNX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:26331541-26413949","ensembl_id":"ENSG00000086300"}},"GRch38":{"90":{"location":"7:26291895-26374329","ensembl_id":"ENSG00000086300"}}},"hgnc_date_symbol_changed":"2001-04-10"},"entity_type":"gene","entity_name":"SNX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30885997, PMID: 22499339"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteopetrosis, autosomal recessive 8 MIM#615085"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BAF60B","Rsc6p","CRACD2","PRO2451"],"biotype":"protein_coding","hgnc_id":"HGNC:11107","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2","omim_gene":["601736"],"alias_name":["mammalian chromatin remodeling complex BRG1-associated factor 60B","Swp73-like protein","chromatin remodeling complex BAF60B subunit","SWI/SNF complex 60 kDa subunit B"],"gene_symbol":"SMARCD2","hgnc_symbol":"SMARCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61909444-61920425","ensembl_id":"ENSG00000108604"}},"GRch38":{"90":{"location":"17:63832081-63843065","ensembl_id":"ENSG00000108604"}}},"hgnc_date_symbol_changed":"1998-05-15"},"entity_type":"gene","entity_name":"SMARCD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 28369036, 33279574, 33025377"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Specific granule deficiency 2 MIM#617475"],"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":["EAAT1","GLAST","EA6"],"biotype":"protein_coding","hgnc_id":"HGNC:10941","gene_name":"solute carrier family 1 member 3","omim_gene":["600111"],"alias_name":["glutamate transporter variant EAAT1ex9skip"],"gene_symbol":"SLC1A3","hgnc_symbol":"SLC1A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36606457-36688436","ensembl_id":"ENSG00000079215"}},"GRch38":{"90":{"location":"5:36606355-36688334","ensembl_id":"ENSG00000079215"}}},"hgnc_date_symbol_changed":"1994-02-15"},"entity_type":"gene","entity_name":"SLC1A3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32754645"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Episodic ataxia, type 6 MIM#612656"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPL"],"biotype":"protein_coding","hgnc_id":"HGNC:10817","gene_name":"sphingosine-1-phosphate lyase 1","omim_gene":["603729"],"alias_name":null,"gene_symbol":"SGPL1","hgnc_symbol":"SGPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72575717-72640930","ensembl_id":"ENSG00000166224"}},"GRch38":{"90":{"location":"10:70815961-70881173","ensembl_id":"ENSG00000166224"}}},"hgnc_date_symbol_changed":"1999-02-03"},"entity_type":"gene","entity_name":"SGPL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28165343"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Nephrotic syndrome, type 14 MIM#617575"],"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":["C1IN","C1-INH","HAE1","HAE2"],"biotype":"protein_coding","hgnc_id":"HGNC:1228","gene_name":"serpin family G member 1","omim_gene":["606860"],"alias_name":["plasma protease C1 inhibitor","angioedema, hereditary"],"gene_symbol":"SERPING1","hgnc_symbol":"SERPING1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:57364860-57382326","ensembl_id":"ENSG00000149131"}},"GRch38":{"90":{"location":"11:57597387-57614853","ensembl_id":"ENSG00000149131"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SERPING1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32898710"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Angioedema, hereditary, 1 and 2 MIM#106100"],"mode_of_inheritance":"BOTH monoallelic and 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":["HLGP85","LIMPII","SR-BII","LIMP-2"],"biotype":"protein_coding","hgnc_id":"HGNC:1665","gene_name":"scavenger receptor class B member 2","omim_gene":["602257"],"alias_name":null,"gene_symbol":"SCARB2","hgnc_symbol":"SCARB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:77079890-77135046","ensembl_id":"ENSG00000138760"}},"GRch38":{"90":{"location":"4:76158733-76234536","ensembl_id":"ENSG00000138760"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"SCARB2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34337151, PMID: 35346091, PMID: 26677510"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900"],"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":["SERS"],"biotype":"protein_coding","hgnc_id":"HGNC:10537","gene_name":"seryl-tRNA synthetase","omim_gene":["607529"],"alias_name":["serine tRNA ligase 1, cytoplasmic"],"gene_symbol":"SARS","hgnc_symbol":"SARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:109756540-109780791","ensembl_id":"ENSG00000031698"}},"GRch38":{"90":{"location":"1:109213918-109238169","ensembl_id":"ENSG00000031698"}}},"hgnc_date_symbol_changed":"1995-06-09"},"entity_type":"gene","entity_name":"SARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:34570399, PMID: 34194004"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709"],"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:1067","gene_name":"bone morphogenetic protein 1","omim_gene":["112264"],"alias_name":["procollagen C-endopeptidase"],"gene_symbol":"BMP1","hgnc_symbol":"BMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:22022249-22069839","ensembl_id":"ENSG00000168487"}},"GRch38":{"90":{"location":"8:22164736-22212326","ensembl_id":"ENSG00000168487"}}},"hgnc_date_symbol_changed":"1990-06-11"},"entity_type":"gene","entity_name":"BMP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33818922"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteogenesis imperfecta, type XIII , MIM#614856"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["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":["hFKBP65","FLJ22041","FKBP6","FLJ20683","FLJ23833"],"biotype":"protein_coding","hgnc_id":"HGNC:18169","gene_name":"FK506 binding protein 10","omim_gene":["607063"],"alias_name":null,"gene_symbol":"FKBP10","hgnc_symbol":"FKBP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39968932-39979465","ensembl_id":"ENSG00000141756"}},"GRch38":{"90":{"location":"17:41812680-41823217","ensembl_id":"ENSG00000141756"}}},"hgnc_date_symbol_changed":"2002-03-12"},"entity_type":"gene","entity_name":"FKBP10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34173012"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteogenesis imperfecta, type XI, OMIM:610968"],"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":["KIAA0081","BOCA"],"biotype":"protein_coding","hgnc_id":"HGNC:13520","gene_name":"mesoderm development LRP chaperone","omim_gene":["607783"],"alias_name":null,"gene_symbol":"MESD","hgnc_symbol":"MESD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:81239667-81282219","ensembl_id":"ENSG00000117899"}},"GRch38":{"90":{"location":"15:80946289-80989878","ensembl_id":"ENSG00000117899"}}},"hgnc_date_symbol_changed":"2017-05-16"},"entity_type":"gene","entity_name":"MESD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31564437","35092157","33596325","31564437"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Osteogenesis imperfecta, type XX, MIM#\t618644"],"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":["GROS1","LEPRECAN","MGC117314"],"biotype":"protein_coding","hgnc_id":"HGNC:19316","gene_name":"prolyl 3-hydroxylase 1","omim_gene":["610339"],"alias_name":["growth suppressor 1","procollagen-proline 3-dioxygenase"],"gene_symbol":"P3H1","hgnc_symbol":"P3H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43212006-43232755","ensembl_id":"ENSG00000117385"}},"GRch38":{"90":{"location":"1:42746335-42767084","ensembl_id":"ENSG00000117385"}}},"hgnc_date_symbol_changed":"2014-12-12"},"entity_type":"gene","entity_name":"P3H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17277775","18566967"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Osteogenesis imperfecta, type VIII, (MIM# 610915)"],"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":["CYPB","OI9"],"biotype":"protein_coding","hgnc_id":"HGNC:9255","gene_name":"peptidylprolyl isomerase B","omim_gene":["123841"],"alias_name":["cyclophilin B"],"gene_symbol":"PPIB","hgnc_symbol":"PPIB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:64448011-64455404","ensembl_id":"ENSG00000166794"}},"GRch38":{"90":{"location":"15:64155812-64163205","ensembl_id":"ENSG00000166794"}}},"hgnc_date_symbol_changed":"1991-11-25"},"entity_type":"gene","entity_name":"PPIB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["19781681","32392875"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Osteogenesis imperfecta, type IX, MIM# 259440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["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":["EPC-1","PIG35"],"biotype":"protein_coding","hgnc_id":"HGNC:8824","gene_name":"serpin family F member 1","omim_gene":["172860"],"alias_name":["pigment epithelium-derived factor","proliferation-inducing protein 35"],"gene_symbol":"SERPINF1","hgnc_symbol":"SERPINF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1665253-1680868","ensembl_id":"ENSG00000132386"}},"GRch38":{"90":{"location":"17:1761959-1777574","ensembl_id":"ENSG00000132386"}}},"hgnc_date_symbol_changed":"1993-05-18"},"entity_type":"gene","entity_name":"SERPINF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28689307"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteogenesis imperfecta, type VI, MIM# 613982"],"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":["HSP47","colligen"],"biotype":"protein_coding","hgnc_id":"HGNC:1546","gene_name":"serpin family H member 1","omim_gene":["600943"],"alias_name":["collagen binding protein 1"],"gene_symbol":"SERPINH1","hgnc_symbol":"SERPINH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:75273101-75283828","ensembl_id":"ENSG00000149257"}},"GRch38":{"90":{"location":"11:75562056-75572783","ensembl_id":"ENSG00000149257"}}},"hgnc_date_symbol_changed":"1994-01-10"},"entity_type":"gene","entity_name":"SERPINH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29520608","25510505","33524049"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteogenesis imperfecta, type X, MIM#\t613848"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11219","gene_name":"secreted protein acidic and cysteine rich","omim_gene":["182120"],"alias_name":["cysteine-rich protein","secreted protein acidic and rich in cysteine"],"gene_symbol":"SPARC","hgnc_symbol":"SPARC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:151040657-151066726","ensembl_id":"ENSG00000113140"}},"GRch38":{"90":{"location":"5:151661096-151687165","ensembl_id":"ENSG00000113140"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPARC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26027498","34462290"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Osteogenesis imperfecta, type XVII, MIM# 616507"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["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":["FLJ10493","bA219P18.1","D4Ertd89e","TRIC-B"],"biotype":"protein_coding","hgnc_id":"HGNC:25535","gene_name":"transmembrane protein 38B","omim_gene":["611236"],"alias_name":null,"gene_symbol":"TMEM38B","hgnc_symbol":"TMEM38B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:108456825-108538893","ensembl_id":"ENSG00000095209"}},"GRch38":{"90":{"location":"9:105694544-105776612","ensembl_id":"ENSG00000095209"}}},"hgnc_date_symbol_changed":"2004-12-22"},"entity_type":"gene","entity_name":"TMEM38B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23054245","28323974"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteogenesis imperfecta, type XIV , MIM#615066"],"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":["FLJ12042","MESRGP","BOR","DasraB"],"biotype":"protein_coding","hgnc_id":"HGNC:14629","gene_name":"cell division cycle associated 8","omim_gene":["609977"],"alias_name":["borealin"],"gene_symbol":"CDCA8","hgnc_symbol":"CDCA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:38158090-38175391","ensembl_id":"ENSG00000134690"}},"GRch38":{"90":{"location":"1:37692418-37709719","ensembl_id":"ENSG00000134690"}}},"hgnc_date_symbol_changed":"2002-04-03"},"entity_type":"gene","entity_name":"CDCA8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28025328","29546359"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Congenital hypothyroidism, MONDO:0018612, CDCA8-related"],"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:8522","gene_name":"orthodenticle homeobox 2","omim_gene":["600037"],"alias_name":null,"gene_symbol":"OTX2","hgnc_symbol":"OTX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:57267425-57277197","ensembl_id":"ENSG00000165588"}},"GRch38":{"90":{"location":"14:56799905-56810479","ensembl_id":"ENSG00000165588"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"OTX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18728160","35320640","33950863"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pituitary hormone deficiency, combined, 6, MIM# 613986"],"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":[]},{"gene_data":{"alias":["SUT2"],"biotype":"protein_coding","hgnc_id":"HGNC:14467","gene_name":"solute carrier family 26 member 7","omim_gene":["608479"],"alias_name":["Anion exchange transporter"],"gene_symbol":"SLC26A7","hgnc_symbol":"SLC26A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:92221722-92410378","ensembl_id":"ENSG00000147606"}},"GRch38":{"90":{"location":"8:91209494-91398152","ensembl_id":"ENSG00000147606"}}},"hgnc_date_symbol_changed":"2001-01-25"},"entity_type":"gene","entity_name":"SLC26A7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34780050","32486989","31372509","30333321"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Congenital hypothyroidism, MONDO:0018612, SLC26A7-related"],"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":["dJ543J19.4"],"biotype":"protein_coding","hgnc_id":"HGNC:16257","gene_name":"tubulin beta 1 class VI","omim_gene":["612901"],"alias_name":["class VI beta-tubulin"],"gene_symbol":"TUBB1","hgnc_symbol":"TUBB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:57594309-57601709","ensembl_id":"ENSG00000101162"}},"GRch38":{"90":{"location":"20:59019254-59026654","ensembl_id":"ENSG00000101162"}}},"hgnc_date_symbol_changed":"2001-07-17"},"entity_type":"gene","entity_name":"TUBB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30446499"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Congenital hypothyroidism, MONDO:0018612, TUBB1-related","Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112"],"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":[]},{"gene_data":{"alias":["BAM22","AP105A"],"biotype":"protein_coding","hgnc_id":"HGNC:554","gene_name":"adaptor related protein complex 1 beta 1 subunit","omim_gene":["600157"],"alias_name":null,"gene_symbol":"AP1B1","hgnc_symbol":"AP1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29723669-29819168","ensembl_id":"ENSG00000100280"}},"GRch38":{"90":{"location":"22:29327680-29423179","ensembl_id":"ENSG00000100280"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1B1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:31630791, 31630788, 33452671"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150"],"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":["MUC-24","MGC-24","DFNA66"],"biotype":"protein_coding","hgnc_id":"HGNC:1632","gene_name":"CD164 molecule","omim_gene":["603356"],"alias_name":["deafness, autosomal dominant 66"],"gene_symbol":"CD164","hgnc_symbol":"CD164","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:109687717-109703762","ensembl_id":"ENSG00000135535"}},"GRch38":{"90":{"location":"6:109366514-109382457","ensembl_id":"ENSG00000135535"}}},"hgnc_date_symbol_changed":"2000-06-08"},"entity_type":"gene","entity_name":"CD164","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal dominant 66  MIM#616969"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434P106","dJ965G21.2","BEM46L2","ABHD12A"],"biotype":"protein_coding","hgnc_id":"HGNC:15868","gene_name":"abhydrolase domain containing 12","omim_gene":["613599"],"alias_name":null,"gene_symbol":"ABHD12","hgnc_symbol":"ABHD12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:25275379-25371619","ensembl_id":"ENSG00000100997"}},"GRch38":{"90":{"location":"20:25294743-25390983","ensembl_id":"ENSG00000100997"}}},"hgnc_date_symbol_changed":"2006-03-10"},"entity_type":"gene","entity_name":"ABHD12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674"],"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":["C-NAP1"],"biotype":"protein_coding","hgnc_id":"HGNC:1859","gene_name":"centrosomal protein 250","omim_gene":["609689"],"alias_name":null,"gene_symbol":"CEP250","hgnc_symbol":"CEP250","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:34042985-34099804","ensembl_id":"ENSG00000126001"}},"GRch38":{"90":{"location":"20:35455164-35519280","ensembl_id":"ENSG00000126001"}}},"hgnc_date_symbol_changed":"2006-01-11"},"entity_type":"gene","entity_name":"CEP250","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34223797, PMID: 29718797, PMID: 30459346, PMID: 28005958"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Cone-rod dystrophy and hearing loss 2 MIM#618358"],"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:2051","gene_name":"claudin 9","omim_gene":["615799"],"alias_name":null,"gene_symbol":"CLDN9","hgnc_symbol":"CLDN9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3062457-3064506","ensembl_id":"ENSG00000213937"}},"GRch38":{"90":{"location":"16:3012456-3014505","ensembl_id":"ENSG00000213937"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"CLDN9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34265170"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal recessive 116  MIM#619093"],"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:2208","gene_name":"collagen type IV alpha 6 chain","omim_gene":["303631"],"alias_name":null,"gene_symbol":"COL4A6","hgnc_symbol":"COL4A6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:107386780-107682727","ensembl_id":"ENSG00000197565"}},"GRch38":{"90":{"location":"X:108155607-108439497","ensembl_id":"ENSG00000197565"}}},"hgnc_date_symbol_changed":"1993-10-01"},"entity_type":"gene","entity_name":"COL4A6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33840813, PMID: 23714752"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, X-linked 6 MIM#300914"],"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":["DFNA40"],"biotype":"protein_coding","hgnc_id":"HGNC:2418","gene_name":"crystallin mu","omim_gene":["123740"],"alias_name":["thiomorpholine-carboxylate dehydrogenase"],"gene_symbol":"CRYM","hgnc_symbol":"CRYM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:21250195-21314404","ensembl_id":"ENSG00000103316"}},"GRch38":{"90":{"location":"16:21238874-21303083","ensembl_id":"ENSG00000103316"}}},"hgnc_date_symbol_changed":"1992-11-26"},"entity_type":"gene","entity_name":"CRYM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 12471561, 32742378"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal dominant 40\tMIM#616357"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13687","C18orf6"],"biotype":"protein_coding","hgnc_id":"HGNC:31042","gene_name":"growth regulation by estrogen in breast cancer 1 like","omim_gene":null,"alias_name":null,"gene_symbol":"GREB1L","hgnc_symbol":"GREB1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:18822203-19105378","ensembl_id":"ENSG00000141449"}},"GRch38":{"90":{"location":"18:21242242-21525417","ensembl_id":"ENSG00000141449"}}},"hgnc_date_symbol_changed":"2009-09-08"},"entity_type":"gene","entity_name":"GREB1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29955957, 32585897"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Deafness, autosomal dominant 80\tMIM#619274"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LMX1.1"],"biotype":"protein_coding","hgnc_id":"HGNC:6653","gene_name":"LIM homeobox transcription factor 1 alpha","omim_gene":["600298"],"alias_name":null,"gene_symbol":"LMX1A","hgnc_symbol":"LMX1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:165171104-165325952","ensembl_id":"ENSG00000162761"}},"GRch38":{"90":{"location":"1:165201867-165356715","ensembl_id":"ENSG00000162761"}}},"hgnc_date_symbol_changed":"1994-09-07"},"entity_type":"gene","entity_name":"LMX1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29754270"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal dominant 7 MIM#601412"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EVA"],"biotype":"protein_coding","hgnc_id":"HGNC:3496","gene_name":"myelin protein zero like 2","omim_gene":["604873"],"alias_name":null,"gene_symbol":"MPZL2","hgnc_symbol":"MPZL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118124118-118135251","ensembl_id":"ENSG00000149573"}},"GRch38":{"90":{"location":"11:118253403-118264536","ensembl_id":"ENSG00000149573"}}},"hgnc_date_symbol_changed":"2007-08-01"},"entity_type":"gene","entity_name":"MPZL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29982980, 29961571, 35734045,33234333"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal recessive 111 MIM#618145"],"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":["FLJ22774"],"biotype":"protein_coding","hgnc_id":"HGNC:23503","gene_name":"SLIT and NTRK like family member 6","omim_gene":["609681"],"alias_name":null,"gene_symbol":"SLITRK6","hgnc_symbol":"SLITRK6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:86366925-86373623","ensembl_id":"ENSG00000184564"}},"GRch38":{"90":{"location":"13:85792790-85799488","ensembl_id":"ENSG00000184564"}}},"hgnc_date_symbol_changed":"2004-01-08"},"entity_type":"gene","entity_name":"SLITRK6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 23543054, PMID: 25590127"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Deafness and myopia MIM#221200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Beta2"],"biotype":"protein_coding","hgnc_id":"HGNC:20771","gene_name":"tubulin beta 4B class IVb","omim_gene":["602660"],"alias_name":["class IVb beta-tubulin"],"gene_symbol":"TUBB4B","hgnc_symbol":"TUBB4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140135665-140138159","ensembl_id":"ENSG00000188229"}},"GRch38":{"90":{"location":"9:137241213-137243707","ensembl_id":"ENSG00000188229"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29198720, 35240325"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Leber congenital amaurosis with early-onset deafness\tMIM#617879"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD246"],"biotype":"protein_coding","hgnc_id":"HGNC:427","gene_name":"ALK receptor tyrosine kinase","omim_gene":["105590"],"alias_name":null,"gene_symbol":"ALK","hgnc_symbol":"ALK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:29415640-30144432","ensembl_id":"ENSG00000171094"}},"GRch38":{"90":{"location":"2:29192774-29921566","ensembl_id":"ENSG00000171094"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"ALK","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 22071890"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["{Neuroblastoma, susceptibility to, 3} MIM#613014"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0155","TSBP","p150TSP"],"biotype":"protein_coding","hgnc_id":"HGNC:16850","gene_name":"CTR9 homolog, Paf1/RNA polymerase II complex component","omim_gene":["609366"],"alias_name":null,"gene_symbol":"CTR9","hgnc_symbol":"CTR9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:10772534-10801290","ensembl_id":"ENSG00000198730"}},"GRch38":{"90":{"location":"11:10750987-10779743","ensembl_id":"ENSG00000198730"}}},"hgnc_date_symbol_changed":"2006-05-22"},"entity_type":"gene","entity_name":"CTR9","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 32412586"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Wilms tumour predisposition"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RE2"],"biotype":"protein_coding","hgnc_id":"HGNC:23694","gene_name":"G protein-coupled receptor 161","omim_gene":["612250"],"alias_name":null,"gene_symbol":"GPR161","hgnc_symbol":"GPR161","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:168053997-168106821","ensembl_id":"ENSG00000143147"}},"GRch38":{"90":{"location":"1:168079543-168137667","ensembl_id":"ENSG00000143147"}}},"hgnc_date_symbol_changed":"2003-12-01"},"entity_type":"gene","entity_name":"GPR161","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 31609649"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Medulloblastoma predisposition syndrome MIM#155255"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BSAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8619","gene_name":"paired box 5","omim_gene":["167414"],"alias_name":["B-cell lineage specific activator"],"gene_symbol":"PAX5","hgnc_symbol":"PAX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:36833272-37034103","ensembl_id":"ENSG00000196092"}},"GRch38":{"90":{"location":"9:36833275-37034185","ensembl_id":"ENSG00000196092"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"PAX5","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 24013638"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["{Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SUFUH","SUFUXL","PRO1280"],"biotype":"protein_coding","hgnc_id":"HGNC:16466","gene_name":"SUFU negative regulator of hedgehog signaling","omim_gene":["607035"],"alias_name":null,"gene_symbol":"SUFU","hgnc_symbol":"SUFU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104263744-104393292","ensembl_id":"ENSG00000107882"}},"GRch38":{"90":{"location":"10:102503987-102633535","ensembl_id":"ENSG00000107882"}}},"hgnc_date_symbol_changed":"2001-08-28"},"entity_type":"gene","entity_name":"SUFU","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 29186568"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["{Medulloblastoma} MIM#155255"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGTAVPRL","AII","AVP","FCAS","FCU","NALP3","PYPAF1","MWS","CLR1.1"],"biotype":"protein_coding","hgnc_id":"HGNC:16400","gene_name":"NLR family pyrin domain containing 3","omim_gene":["606416"],"alias_name":["Cryopyrin","nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"],"gene_symbol":"NLRP3","hgnc_symbol":"NLRP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:247579458-247612410","ensembl_id":"ENSG00000162711"}},"GRch38":{"90":{"location":"1:247416156-247449108","ensembl_id":"ENSG00000162711"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25038238"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200"],"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":["PDHE1B"],"biotype":"protein_coding","hgnc_id":"HGNC:8808","gene_name":"pyruvate dehydrogenase E1 beta subunit","omim_gene":["179060"],"alias_name":null,"gene_symbol":"PDHB","hgnc_symbol":"PDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:58413357-58419584","ensembl_id":"ENSG00000168291"}},"GRch38":{"90":{"location":"3:58427630-58433857","ensembl_id":"ENSG00000168291"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Pyruvate dehydrogenase E1-beta deficiency, MIM#\t614111"],"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Pyruvate dehydrogenase E2 deficiency, MIM#\t245348"],"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":null,"hgnc_id":"HGNC:12029","gene_name":"T-cell receptor alpha constant","omim_gene":["186880"],"alias_name":null,"gene_symbol":"TRAC","hgnc_symbol":"TRAC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23016447-23021097","ensembl_id":"ENSG00000229164"}},"GRch38":{"90":{"location":"14:22547506-22552154","ensembl_id":"ENSG00000277734"}}},"hgnc_date_symbol_changed":"2000-05-08"},"entity_type":"gene","entity_name":"TRAC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["21206088"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder","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":["ADTD"],"biotype":"protein_coding","hgnc_id":"HGNC:568","gene_name":"adaptor related protein complex 3 delta 1 subunit","omim_gene":["607246"],"alias_name":null,"gene_symbol":"AP3D1","hgnc_symbol":"AP3D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2100988-2164464","ensembl_id":"ENSG00000065000"}},"GRch38":{"90":{"location":"19:2100988-2164465","ensembl_id":"ENSG00000065000"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3D1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26744459","9697856","30472485","36445457"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Hermansky-Pudlak syndrome 10, MIM# 617050"],"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":["RAP3","APOA-V"],"biotype":"protein_coding","hgnc_id":"HGNC:17288","gene_name":"apolipoprotein A5","omim_gene":["606368"],"alias_name":null,"gene_symbol":"APOA5","hgnc_symbol":"APOA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:116660083-116663136","ensembl_id":"ENSG00000110243"}},"GRch38":{"90":{"location":"11:116789367-116792420","ensembl_id":"ENSG00000110243"}}},"hgnc_date_symbol_changed":"2001-12-11"},"entity_type":"gene","entity_name":"APOA5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23307945","31390500"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Hyperchylomicronaemia, late-onset, MIM#\t144650"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["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":[]}]}