{"count":35518,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=325","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=323","results":[{"gene_data":{"alias":["KIAA1620"],"biotype":"protein_coding","hgnc_id":"HGNC:13797","gene_name":"periaxin","omim_gene":["605725"],"alias_name":null,"gene_symbol":"PRX","hgnc_symbol":"PRX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:40899675-40919273","ensembl_id":"ENSG00000105227"}},"GRch38":{"90":{"location":"19:40393768-40413366","ensembl_id":"ENSG00000105227"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PRX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot-Marie-Tooth disease, type 4F, MIM# 614895","Dejerine-Sottas disease, MIM# 145900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9498","gene_name":"prosaposin","omim_gene":["176801"],"alias_name":["variant Gaucher disease and variant metachromatic leukodystrophy"],"gene_symbol":"PSAP","hgnc_symbol":"PSAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73576055-73611126","ensembl_id":"ENSG00000197746"}},"GRch38":{"90":{"location":"10:71816298-71851375","ensembl_id":"ENSG00000197746"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PSAP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Parkinson disease","Combined SAP deficiency, MIM# 611721","Encephalopathy due to prosaposin deficiency, MONDO:0012719","Krabbe disease, atypical, MIM# 611722","Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900","Gaucher disease, atypical, MIM# 610539"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSA"],"biotype":"protein_coding","hgnc_id":"HGNC:19129","gene_name":"phosphoserine aminotransferase 1","omim_gene":["610936"],"alias_name":null,"gene_symbol":"PSAT1","hgnc_symbol":"PSAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80912059-80945009","ensembl_id":"ENSG00000135069"}},"GRch38":{"90":{"location":"9:78297143-78330093","ensembl_id":"ENSG00000135069"}}},"hgnc_date_symbol_changed":"2003-05-19"},"entity_type":"gene","entity_name":"PSAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red","BeginNGS"],"phenotypes":["Phosphoserine aminotransferase deficiency , MIM#\t610992","Phosphoserine aminotransferase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9577","gene_name":"phosphoserine phosphatase","omim_gene":["172480"],"alias_name":null,"gene_symbol":"PSPH","hgnc_symbol":"PSPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:56078744-56119297","ensembl_id":"ENSG00000146733"}},"GRch38":{"90":{"location":"7:56011051-56051604","ensembl_id":"ENSG00000146733"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PSPH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16763900","26589312","29899766"],"evidence":["Expert Review Amber","BeginNGS"],"phenotypes":["Phosphoserine phosphatase deficiency, MIM#\t614023"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BCNS"],"biotype":"protein_coding","hgnc_id":"HGNC:9585","gene_name":"patched 1","omim_gene":["601309"],"alias_name":null,"gene_symbol":"PTCH1","hgnc_symbol":"PTCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:98205262-98279339","ensembl_id":"ENSG00000185920"}},"GRch38":{"90":{"location":"9:95442980-95517057","ensembl_id":"ENSG00000185920"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"PTCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Basal cell nevus syndrome, MIM# 109400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MMAC1","TEP1","PTEN1"],"biotype":"protein_coding","hgnc_id":"HGNC:9588","gene_name":"phosphatase and tensin homolog","omim_gene":["601728"],"alias_name":["mutated in multiple advanced cancers 1"],"gene_symbol":"PTEN","hgnc_symbol":"PTEN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89622870-89731687","ensembl_id":"ENSG00000171862"}},"GRch38":{"90":{"location":"10:87863113-87971930","ensembl_id":"ENSG00000171862"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"PTEN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cowden syndrome 1, MIM# 158350","Macrocephaly/autism syndrome, MIM# 605309"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","cancer"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTF1-p48","bHLHa29"],"biotype":"protein_coding","hgnc_id":"HGNC:23734","gene_name":"pancreas specific transcription factor, 1a","omim_gene":["607194"],"alias_name":null,"gene_symbol":"PTF1A","hgnc_symbol":"PTF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:23481256-23483181","ensembl_id":"ENSG00000168267"}},"GRch38":{"90":{"location":"10:23192327-23194252","ensembl_id":"ENSG00000168267"}}},"hgnc_date_symbol_changed":"2003-12-04"},"entity_type":"gene","entity_name":"PTF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Pancreatic and cerebellar agenesis, MIM#\t609069","Pancreatic agenesis 2, MIM#\t615935"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","gastrointestinal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Failure of tooth eruption, primary MIM#125350","Eiken syndrome MIM#600002","Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400","Chondrodysplasia, Blomstrand type MIM#215045"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BPTP3","SH-PTP2","SHP-2","PTP2C","SHP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9644","gene_name":"protein tyrosine phosphatase, non-receptor type 11","omim_gene":["176876"],"alias_name":null,"gene_symbol":"PTPN11","hgnc_symbol":"PTPN11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112856155-112947717","ensembl_id":"ENSG00000179295"}},"GRch38":{"90":{"location":"12:112418351-112509913","ensembl_id":"ENSG00000179295"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"PTPN11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Noonan syndrome 1, MIM# 163950"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LCA","T200","GP180"],"biotype":"protein_coding","hgnc_id":"HGNC:9666","gene_name":"protein tyrosine phosphatase, receptor type C","omim_gene":["151460"],"alias_name":null,"gene_symbol":"PTPRC","hgnc_symbol":"PTPRC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:198607801-198726545","ensembl_id":"ENSG00000081237"}},"GRch38":{"90":{"location":"1:198638671-198757283","ensembl_id":"ENSG00000081237"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PTPRC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTPS"],"biotype":"protein_coding","hgnc_id":"HGNC:9689","gene_name":"6-pyruvoyltetrahydropterin synthase","omim_gene":["612719"],"alias_name":null,"gene_symbol":"PTS","hgnc_symbol":"PTS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:112097088-112140678","ensembl_id":"ENSG00000150787"}},"GRch38":{"90":{"location":"11:112226365-112269955","ensembl_id":"ENSG00000150787"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PTS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Hyperphenylalaninemia, BH4-deficient, A, MIM#261640"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9725","gene_name":"glycogen phosphorylase L","omim_gene":["613741"],"alias_name":["Hers disease","glycogen storage disease type VI","glycogen phosphorylase, liver form"],"gene_symbol":"PYGL","hgnc_symbol":"PYGL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:51324609-51411454","ensembl_id":"ENSG00000100504"}},"GRch38":{"90":{"location":"14:50857891-50944736","ensembl_id":"ENSG00000100504"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PYGL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Glycogen storage disease VI, MIM# 232700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9726","gene_name":"glycogen phosphorylase, muscle associated","omim_gene":["608455"],"alias_name":["McArdle syndrome","glycogen storage disease type V","glycogen phosphorylase, muscle form","myophosphorylase"],"gene_symbol":"PYGM","hgnc_symbol":"PYGM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64513861-64527769","ensembl_id":"ENSG00000068976"}},"GRch38":{"90":{"location":"11:64746389-64760297","ensembl_id":"ENSG00000068976"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PYGM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["McArdle disease, MIM# 232600","Glycogen storage disease, autosomal dominant"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DHPR","PKU2","SDR33C1"],"biotype":"protein_coding","hgnc_id":"HGNC:9752","gene_name":"quinoid dihydropteridine reductase","omim_gene":["612676"],"alias_name":["6,7-dihydropteridine reductase","short chain dehydrogenase/reductase family 33C, member 1"],"gene_symbol":"QDPR","hgnc_symbol":"QDPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:17461884-17513857","ensembl_id":"ENSG00000151552"}},"GRch38":{"90":{"location":"4:17460261-17512234","ensembl_id":"ENSG00000151552"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"QDPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Dihydropteridine reductase deficiency, MIM#261630"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14263","gene_name":"RAB23, member RAS oncogene family","omim_gene":["606144"],"alias_name":null,"gene_symbol":"RAB23","hgnc_symbol":"RAB23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:57053607-57087078","ensembl_id":"ENSG00000112210"}},"GRch38":{"90":{"location":"6:57186992-57222314","ensembl_id":"ENSG00000112210"}}},"hgnc_date_symbol_changed":"2000-12-18"},"entity_type":"gene","entity_name":"RAB23","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Carpenter syndrome (MIM#201000)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAB27","RAM","GS2","HsT18676"],"biotype":"protein_coding","hgnc_id":"HGNC:9766","gene_name":"RAB27A, member RAS oncogene family","omim_gene":["603868"],"alias_name":null,"gene_symbol":"RAB27A","hgnc_symbol":"RAB27A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:55495164-55611311","ensembl_id":"ENSG00000069974"}},"GRch38":{"90":{"location":"15:55202966-55319113","ensembl_id":"ENSG00000069974"}}},"hgnc_date_symbol_changed":"1996-11-15"},"entity_type":"gene","entity_name":"RAB27A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32374962","32107531"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Griscelli syndrome, MIM#607624"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAB3GAP","KIAA0066","RAB3GAP130","WARBM1"],"biotype":"protein_coding","hgnc_id":"HGNC:17063","gene_name":"RAB3 GTPase activating protein catalytic subunit 1","omim_gene":["602536"],"alias_name":null,"gene_symbol":"RAB3GAP1","hgnc_symbol":"RAB3GAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:135809835-135933964","ensembl_id":"ENSG00000115839"}},"GRch38":{"90":{"location":"2:135052265-135176394","ensembl_id":"ENSG00000115839"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAB3-GAP150","KIAA0839","DKFZP434D245","SPG69"],"biotype":"protein_coding","hgnc_id":"HGNC:17168","gene_name":"RAB3 GTPase activating non-catalytic protein subunit 2","omim_gene":["609275"],"alias_name":null,"gene_symbol":"RAB3GAP2","hgnc_symbol":"RAB3GAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:220321635-220445796","ensembl_id":"ENSG00000118873"}},"GRch38":{"90":{"location":"1:220148293-220272454","ensembl_id":"ENSG00000118873"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20967465","23420520"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Warburg micro syndrome 2, MIM# 614225"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9788","gene_name":"RAB7A, member RAS oncogene family","omim_gene":["602298"],"alias_name":null,"gene_symbol":"RAB7A","hgnc_symbol":"RAB7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128444965-128533639","ensembl_id":"ENSG00000075785"}},"GRch38":{"90":{"location":"3:128726122-128814796","ensembl_id":"ENSG00000075785"}}},"hgnc_date_symbol_changed":"2007-01-15"},"entity_type":"gene","entity_name":"RAB7A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot-Marie-Tooth disease, type 2B, MIM# 600882"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Raf-1","c-Raf","CRAF"],"biotype":"protein_coding","hgnc_id":"HGNC:9829","gene_name":"Raf-1 proto-oncogene, serine/threonine kinase","omim_gene":["164760"],"alias_name":["C-Raf proto-oncogene, serine/threonine kinase"],"gene_symbol":"RAF1","hgnc_symbol":"RAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:12625100-12705725","ensembl_id":"ENSG00000132155"}},"GRch38":{"90":{"location":"3:12583601-12664226","ensembl_id":"ENSG00000132155"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RAF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Noonan syndrome 5, MIM# 611553"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF74","MGC43321"],"biotype":"protein_coding","hgnc_id":"HGNC:9831","gene_name":"recombination activating 1","omim_gene":["179615"],"alias_name":["recombination activating protein 1","RING finger protein 74","V(D)J recombination-activating protein 1"],"gene_symbol":"RAG1","hgnc_symbol":"RAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:36532259-36614706","ensembl_id":"ENSG00000166349"}},"GRch38":{"90":{"location":"11:36510709-36593156","ensembl_id":"ENSG00000166349"}}},"hgnc_date_symbol_changed":"1990-06-18"},"entity_type":"gene","entity_name":"RAG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Recombinase activating gene 1 deficiency MONDO:0000572"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9832","gene_name":"recombination activating 2","omim_gene":["179616"],"alias_name":null,"gene_symbol":"RAG2","hgnc_symbol":"RAG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:36597124-36619829","ensembl_id":"ENSG00000175097"}},"GRch38":{"90":{"location":"11:36575574-36598279","ensembl_id":"ENSG00000175097"}}},"hgnc_date_symbol_changed":"1990-08-15"},"entity_type":"gene","entity_name":"RAG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BEginNGS"],"phenotypes":["Recombinase activating gene 2 deficiency MONDO:0000573"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434A139","SMS","KIAA1820","MGC12824"],"biotype":"protein_coding","hgnc_id":"HGNC:9834","gene_name":"retinoic acid induced 1","omim_gene":["607642"],"alias_name":null,"gene_symbol":"RAI1","hgnc_symbol":"RAI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:17584787-17714767","ensembl_id":"ENSG00000108557"}},"GRch38":{"90":{"location":"17:17681473-17811453","ensembl_id":"ENSG00000108557"}}},"hgnc_date_symbol_changed":"1999-04-16"},"entity_type":"gene","entity_name":"RAI1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Smith-Magenis syndrome (MIM#182290)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF205","CMS1D","CMS1E"],"biotype":"protein_coding","hgnc_id":"HGNC:9863","gene_name":"receptor associated protein of the synapse","omim_gene":["601592"],"alias_name":["rapsyn"],"gene_symbol":"RAPSN","hgnc_symbol":"RAPSN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47459308-47470730","ensembl_id":"ENSG00000165917"}},"GRch38":{"90":{"location":"11:47437757-47449178","ensembl_id":"ENSG00000165917"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"RAPSN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GAP","CM-AVM","p120GAP","p120RASGAP","p120"],"biotype":"protein_coding","hgnc_id":"HGNC:9871","gene_name":"RAS p21 protein activator 1","omim_gene":["139150"],"alias_name":["capillary malformation-arteriovenous malformation","p120 RAS GTPase activating protein"],"gene_symbol":"RASA1","hgnc_symbol":"RASA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:86563705-86687748","ensembl_id":"ENSG00000145715"}},"GRch38":{"90":{"location":"5:87267888-87391931","ensembl_id":"ENSG00000145715"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RASA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Capillary malformation-arteriovenous malformation 1, MIM#608354"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RB","PPP1R130"],"biotype":"protein_coding","hgnc_id":"HGNC:9884","gene_name":"RB transcriptional corepressor 1","omim_gene":["614041"],"alias_name":["prepro-retinoblastoma-associated protein","protein phosphatase 1, regulatory subunit 130"],"gene_symbol":"RB1","hgnc_symbol":"RB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48877887-49056122","ensembl_id":"ENSG00000139687"}},"GRch38":{"90":{"location":"13:48303751-48481986","ensembl_id":"ENSG00000139687"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Retinoblastoma, MIM# 180200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNRP","BOV-1A","BOV-1B","BOV-1C","RBM8B","Y14"],"biotype":null,"hgnc_id":"HGNC:9905","gene_name":"RNA binding motif protein 8A","omim_gene":["605313"],"alias_name":null,"gene_symbol":"RBM8A","hgnc_symbol":"RBM8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145507598-145513536","ensembl_id":"ENSG00000131795"}},"GRch38":{"90":{"location":"1:145917714-145927678","ensembl_id":"ENSG00000265241"}}},"hgnc_date_symbol_changed":"1999-05-05"},"entity_type":"gene","entity_name":"RBM8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Thrombocytopenia-absent radius syndrome, MIM# 274000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9944","gene_name":"radixin","omim_gene":["179410"],"alias_name":null,"gene_symbol":"RDX","hgnc_symbol":"RDX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:110045605-110167447","ensembl_id":"ENSG00000137710"}},"GRch38":{"90":{"location":"11:110174880-110296722","ensembl_id":"ENSG00000137710"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"RDX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19215054","22567349","15314067","26226137","17226784"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Deafness, autosomal recessive 24, MIM# 611022"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RecQ4"],"biotype":"protein_coding","hgnc_id":"HGNC:9949","gene_name":"RecQ like helicase 4","omim_gene":["603780"],"alias_name":null,"gene_symbol":"RECQL4","hgnc_symbol":"RECQL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145736667-145743229","ensembl_id":"ENSG00000160957"}},"GRch38":{"90":{"location":"8:144511288-144517845","ensembl_id":"ENSG00000160957"}}},"hgnc_date_symbol_changed":"2014-03-07"},"entity_type":"gene","entity_name":"RECQL4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Rothmund-Thomson syndrome, type 2, MIM# 268400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9958","gene_name":"renin","omim_gene":["179820"],"alias_name":null,"gene_symbol":"REN","hgnc_symbol":"REN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:204123944-204135465","ensembl_id":"ENSG00000143839"}},"GRch38":{"90":{"location":"1:204154819-204190324","ensembl_id":"ENSG00000143839"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"REN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Renal tubular dysgenesis, MIM# 267430"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTC","CDHF12","RET51","CDHR16"],"biotype":"protein_coding","hgnc_id":"HGNC:9967","gene_name":"ret proto-oncogene","omim_gene":["164761"],"alias_name":["cadherin-related family member 16","RET receptor tyrosine kinase","rearranged during transfection"],"gene_symbol":"RET","hgnc_symbol":"RET","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:43572475-43625799","ensembl_id":"ENSG00000165731"}},"GRch38":{"90":{"location":"10:43077027-43130351","ensembl_id":"ENSG00000165731"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"RET","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Multiple endocrine neoplasia IIB","Multiple endocrine neoplasia IIA"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31737055","31596031","24327336","19838196"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10520","RNF201","FANCW"],"biotype":"protein_coding","hgnc_id":"HGNC:25539","gene_name":"ring finger and WD repeat domain 3","omim_gene":["614151"],"alias_name":null,"gene_symbol":"RFWD3","hgnc_symbol":"RFWD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:74655292-74700779","ensembl_id":"ENSG00000168411"}},"GRch38":{"90":{"location":"16:74621394-74666881","ensembl_id":"ENSG00000168411"}}},"hgnc_date_symbol_changed":"2005-01-13"},"entity_type":"gene","entity_name":"RFWD3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Fanconi anaemia, complementation group W, MIM# \t617784"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BLS","RFX-B","ANKRA1","F14150_1","MGC138628"],"biotype":"protein_coding","hgnc_id":"HGNC:9987","gene_name":"regulatory factor X associated ankyrin containing protein","omim_gene":["603200"],"alias_name":["ankyrin repeat-containing regulatory factor X-associated protein","regulatory factor X subunit B","RFX-Bdelta4","DNA-binding protein RFXANK"],"gene_symbol":"RFXANK","hgnc_symbol":"RFXANK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19303008-19312678","ensembl_id":"ENSG00000064490"}},"GRch38":{"90":{"location":"19:19192229-19201869","ensembl_id":"ENSG00000064490"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"RFXANK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["MHC class II deficiency, complementation group B\t, MIM#209920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RMRPR","RRP2","NME1"],"biotype":null,"hgnc_id":"HGNC:10031","gene_name":"RNA component of mitochondrial RNA processing endoribonuclease","omim_gene":["157660"],"alias_name":null,"gene_symbol":"RMRP","hgnc_symbol":"RMRP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35657748-35658015","ensembl_id":"ENSG00000269900"}},"GRch38":{"90":{"location":"9:35657751-35658018","ensembl_id":"ENSG00000269900"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RMRP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Cartilage-hair hypoplasia MIM#250250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","treatable","immunological","non-coding gene"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNASEHI","RNHIA","RNHL","AGS4"],"biotype":"protein_coding","hgnc_id":"HGNC:18518","gene_name":"ribonuclease H2 subunit A","omim_gene":["606034"],"alias_name":null,"gene_symbol":"RNASEH2A","hgnc_symbol":"RNASEH2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12917394-12924452","ensembl_id":"ENSG00000104889"}},"GRch38":{"90":{"location":"19:12802063-12813638","ensembl_id":"ENSG00000104889"}}},"hgnc_date_symbol_changed":"2002-06-05"},"entity_type":"gene","entity_name":"RNASEH2A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Aicardi-Goutieres syndrome 4, MIM# 610333"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11712"],"biotype":"protein_coding","hgnc_id":"HGNC:25671","gene_name":"ribonuclease H2 subunit B","omim_gene":["610326"],"alias_name":null,"gene_symbol":"RNASEH2B","hgnc_symbol":"RNASEH2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:51483814-51544592","ensembl_id":"ENSG00000136104"}},"GRch38":{"90":{"location":"13:50909678-50973745","ensembl_id":"ENSG00000136104"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32877590"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Aicardi-Goutieres syndrome 2, MIM# 610181"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AYP1","AGS3"],"biotype":"protein_coding","hgnc_id":"HGNC:24116","gene_name":"ribonuclease H2 subunit C","omim_gene":["610330"],"alias_name":["Aicardi-Goutieres syndrome 3"],"gene_symbol":"RNASEH2C","hgnc_symbol":"RNASEH2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65482367-65488418","ensembl_id":"ENSG00000172922"}},"GRch38":{"90":{"location":"11:65714896-65720947","ensembl_id":"ENSG00000172922"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32877590"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Aicardi-Goutieres syndrome 3, MIM# 610329"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10257","gene_name":"receptor tyrosine kinase like orphan receptor 2","omim_gene":["602337"],"alias_name":null,"gene_symbol":"ROR2","hgnc_symbol":"ROR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94325373-94712444","ensembl_id":"ENSG00000169071"}},"GRch38":{"90":{"location":"9:91563091-91950162","ensembl_id":"ENSG00000169071"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"ROR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Robinow syndrome, autosomal recessive - MIM#268310"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CORDX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10295","gene_name":"retinitis pigmentosa GTPase regulator","omim_gene":["312610"],"alias_name":null,"gene_symbol":"RPGR","hgnc_symbol":"RPGR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38128416-38186817","ensembl_id":"ENSG00000156313"}},"GRch38":{"90":{"location":"X:38269163-38327564","ensembl_id":"ENSG00000156313"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"RPGR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1005","CORS3","JBTS7","MKS5","NPHP8","FTM","PPP1R134"],"biotype":"protein_coding","hgnc_id":"HGNC:29168","gene_name":"RPGRIP1 like","omim_gene":["610937"],"alias_name":["fantom homolog","Meckel syndrome, type 5","protein phosphatase 1, regulatory subunit 134"],"gene_symbol":"RPGRIP1L","hgnc_symbol":"RPGRIP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:53631595-53737850","ensembl_id":"ENSG00000103494"}},"GRch38":{"90":{"location":"16:53597683-53703938","ensembl_id":"ENSG00000103494"}}},"hgnc_date_symbol_changed":"2007-05-14"},"entity_type":"gene","entity_name":"RPGRIP1L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Joubert syndrome 7, MIM# 611560","Meckel syndrome 5, MIM# 611561","COACH syndrome 3, MIM# 619113","Nephronophthisis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L11"],"biotype":"protein_coding","hgnc_id":"HGNC:10301","gene_name":"ribosomal protein L11","omim_gene":["604175"],"alias_name":null,"gene_symbol":"RPL11","hgnc_symbol":"RPL11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24018269-24022915","ensembl_id":"ENSG00000142676"}},"GRch38":{"90":{"location":"1:23691779-23696425","ensembl_id":"ENSG00000142676"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia, MIM#612562"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPL10","RPLY10","RPYL10","EC45","L15"],"biotype":"protein_coding","hgnc_id":"HGNC:10306","gene_name":"ribosomal protein L15","omim_gene":["604174"],"alias_name":null,"gene_symbol":"RPL15","hgnc_symbol":"RPL15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:23958036-23965183","ensembl_id":"ENSG00000174748"}},"GRch38":{"90":{"location":"3:23916545-23923692","ensembl_id":"ENSG00000174748"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 12 , MIM#\t615550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L18"],"biotype":"protein_coding","hgnc_id":"HGNC:10310","gene_name":"ribosomal protein L18","omim_gene":["604179"],"alias_name":["60S ribosomal protein L18"],"gene_symbol":"RPL18","hgnc_symbol":"RPL18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:49118585-49122793","ensembl_id":"ENSG00000063177"}},"GRch38":{"90":{"location":"19:48615328-48619536","ensembl_id":"ENSG00000063177"}}},"hgnc_date_symbol_changed":"1994-01-04"},"entity_type":"gene","entity_name":"RPL18","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 18 , MIM#\t618310"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L26"],"biotype":"protein_coding","hgnc_id":"HGNC:10327","gene_name":"ribosomal protein L26","omim_gene":["603704"],"alias_name":null,"gene_symbol":"RPL26","hgnc_symbol":"RPL26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8280838-8286531","ensembl_id":"ENSG00000161970"}},"GRch38":{"90":{"location":"17:8377520-8383213","ensembl_id":"ENSG00000161970"}}},"hgnc_date_symbol_changed":"1993-06-15"},"entity_type":"gene","entity_name":"RPL26","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 11 , MIM#\t614900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L27"],"biotype":"protein_coding","hgnc_id":"HGNC:10328","gene_name":"ribosomal protein L27","omim_gene":["607526"],"alias_name":["60S ribosomal protein L27"],"gene_symbol":"RPL27","hgnc_symbol":"RPL27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41150290-41154976","ensembl_id":"ENSG00000131469"}},"GRch38":{"90":{"location":"17:42998273-43002959","ensembl_id":"ENSG00000131469"}}},"hgnc_date_symbol_changed":"1994-05-16"},"entity_type":"gene","entity_name":"RPL27","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 16 , MIM#\t617408"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L35"],"biotype":"protein_coding","hgnc_id":"HGNC:10344","gene_name":"ribosomal protein L35","omim_gene":null,"alias_name":["60S ribosomal protein L35"],"gene_symbol":"RPL35","hgnc_symbol":"RPL35","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:127620159-127624260","ensembl_id":"ENSG00000136942"}},"GRch38":{"90":{"location":"9:124857880-124861981","ensembl_id":"ENSG00000136942"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"RPL35","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 19 , MIM#\t618312"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18535205","32241839"],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 5, MIM#\t612528"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L5","PPP1R135"],"biotype":"protein_coding","hgnc_id":"HGNC:10360","gene_name":"ribosomal protein L5","omim_gene":["603634"],"alias_name":["protein phosphatase 1, regulatory subunit 135"],"gene_symbol":"RPL5","hgnc_symbol":"RPL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:93297582-93307481","ensembl_id":"ENSG00000122406"}},"GRch38":{"90":{"location":"1:92832025-92841924","ensembl_id":"ENSG00000122406"}}},"hgnc_date_symbol_changed":"1995-09-08"},"entity_type":"gene","entity_name":"RPL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia, MIM#612561"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC88819","S10"],"biotype":"protein_coding","hgnc_id":"HGNC:10383","gene_name":"ribosomal protein S10","omim_gene":["603632"],"alias_name":null,"gene_symbol":"RPS10","hgnc_symbol":"RPS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:34385231-34393902","ensembl_id":"ENSG00000124614"}},"GRch38":{"90":{"location":"6:34417454-34426125","ensembl_id":"ENSG00000124614"}}},"hgnc_date_symbol_changed":"1997-07-07"},"entity_type":"gene","entity_name":"RPS10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 9, MIM#\t613308"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RIG","MGC111130","S15"],"biotype":"protein_coding","hgnc_id":"HGNC:10388","gene_name":"ribosomal protein S15","omim_gene":["180535"],"alias_name":["40S ribosomal protein S15","homolog of rat insulinoma","insulinoma protein"],"gene_symbol":"RPS15","hgnc_symbol":"RPS15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1438358-1440583","ensembl_id":"ENSG00000115268"}},"GRch38":{"90":{"location":"19:1438358-1440494","ensembl_id":"ENSG00000115268"}}},"hgnc_date_symbol_changed":"1992-04-16"},"entity_type":"gene","entity_name":"RPS15","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19061985"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S15A"],"biotype":"protein_coding","hgnc_id":"HGNC:10389","gene_name":"ribosomal protein S15a","omim_gene":["603674"],"alias_name":null,"gene_symbol":"RPS15A","hgnc_symbol":"RPS15A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:18792617-18801705","ensembl_id":"ENSG00000134419"}},"GRch38":{"90":{"location":"16:18781295-18790383","ensembl_id":"ENSG00000134419"}}},"hgnc_date_symbol_changed":"1998-08-18"},"entity_type":"gene","entity_name":"RPS15A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 20, MIM# \t618313"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia, MIM#612527"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DBA","S19"],"biotype":"protein_coding","hgnc_id":"HGNC:10402","gene_name":"ribosomal protein S19","omim_gene":["603474"],"alias_name":["Diamond-Blackfan anemia"],"gene_symbol":"RPS19","hgnc_symbol":"RPS19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42363988-42376994","ensembl_id":"ENSG00000105372"}},"GRch38":{"90":{"location":"19:41859918-41872926","ensembl_id":"ENSG00000105372"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"RPS19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia, MIM#105650"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S24"],"biotype":"protein_coding","hgnc_id":"HGNC:10411","gene_name":"ribosomal protein S24","omim_gene":["602412"],"alias_name":null,"gene_symbol":"RPS24","hgnc_symbol":"RPS24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79793518-79816570","ensembl_id":"ENSG00000138326"}},"GRch38":{"90":{"location":"10:78033760-78056812","ensembl_id":"ENSG00000138326"}}},"hgnc_date_symbol_changed":"1990-08-22"},"entity_type":"gene","entity_name":"RPS24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia, MIM#610629"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S26"],"biotype":"protein_coding","hgnc_id":"HGNC:10414","gene_name":"ribosomal protein S26","omim_gene":["603701"],"alias_name":["40S ribosomal protein S26"],"gene_symbol":"RPS26","hgnc_symbol":"RPS26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56435637-56438116","ensembl_id":"ENSG00000197728"}},"GRch38":{"90":{"location":"12:56041853-56044675","ensembl_id":"ENSG00000197728"}}},"hgnc_date_symbol_changed":"1993-01-19"},"entity_type":"gene","entity_name":"RPS26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia, MM#613309"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MPS-1","MPS1","S27"],"biotype":"protein_coding","hgnc_id":"HGNC:10416","gene_name":"ribosomal protein S27","omim_gene":["603702"],"alias_name":["metallopanstimulin 1"],"gene_symbol":"RPS27","hgnc_symbol":"RPS27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153963235-153964626","ensembl_id":"ENSG00000177954"}},"GRch38":{"90":{"location":"1:153990759-153992150","ensembl_id":"ENSG00000177954"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"RPS27","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 17, MIM# \t617409"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S28"],"biotype":"protein_coding","hgnc_id":"HGNC:10418","gene_name":"ribosomal protein S28","omim_gene":["603685"],"alias_name":["40S ribosomal protein S28"],"gene_symbol":"RPS28","hgnc_symbol":"RPS28","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8386042-8388224","ensembl_id":"ENSG00000233927"}},"GRch38":{"90":{"location":"19:8321158-8323340","ensembl_id":"ENSG00000233927"}}},"hgnc_date_symbol_changed":"1993-12-07"},"entity_type":"gene","entity_name":"RPS28","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM#\t606164"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S29"],"biotype":"protein_coding","hgnc_id":"HGNC:10419","gene_name":"ribosomal protein S29","omim_gene":["603633"],"alias_name":null,"gene_symbol":"RPS29","hgnc_symbol":"RPS29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50043390-50065408","ensembl_id":"ENSG00000213741"}},"GRch38":{"90":{"location":"14:49570984-49599164","ensembl_id":"ENSG00000213741"}}},"hgnc_date_symbol_changed":"1997-07-04"},"entity_type":"gene","entity_name":"RPS29","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 13, MIM#\t615909"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S7"],"biotype":"protein_coding","hgnc_id":"HGNC:10440","gene_name":"ribosomal protein S7","omim_gene":["603658"],"alias_name":null,"gene_symbol":"RPS7","hgnc_symbol":"RPS7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:3622795-3628509","ensembl_id":"ENSG00000171863"}},"GRch38":{"90":{"location":"2:3575205-3580919","ensembl_id":"ENSG00000171863"}}},"hgnc_date_symbol_changed":"1997-07-07"},"entity_type":"gene","entity_name":"RPS7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19061985","23718193","27882484","32772263"],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia 8, MIM#\t612563"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RSK","RSK2","HU-3"],"biotype":"protein_coding","hgnc_id":"HGNC:10432","gene_name":"ribosomal protein S6 kinase A3","omim_gene":["300075"],"alias_name":null,"gene_symbol":"RPS6KA3","hgnc_symbol":"RPS6KA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:20168029-20285523","ensembl_id":"ENSG00000177189"}},"GRch38":{"90":{"location":"X:20149911-20267100","ensembl_id":"ENSG00000177189"}}},"hgnc_date_symbol_changed":"1994-07-11"},"entity_type":"gene","entity_name":"RPS6KA3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Coffin-Lowry syndrome MIM# 303600"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p53R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17296","gene_name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","omim_gene":["604712"],"alias_name":null,"gene_symbol":"RRM2B","hgnc_symbol":"RRM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:103216730-103251346","ensembl_id":"ENSG00000048392"}},"GRch38":{"90":{"location":"8:102204502-102239118","ensembl_id":"ENSG00000048392"}}},"hgnc_date_symbol_changed":"2002-01-14"},"entity_type":"gene","entity_name":"RRM2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075","Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075","Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XLRS1"],"biotype":"protein_coding","hgnc_id":"HGNC:10457","gene_name":"retinoschisin 1","omim_gene":["300839"],"alias_name":null,"gene_symbol":"RS1","hgnc_symbol":"RS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:18658030-18690229","ensembl_id":"ENSG00000102104"}},"GRch38":{"90":{"location":"X:18639910-18672109","ensembl_id":"ENSG00000102104"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"RS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Retinoschisis, MIM#312700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ412I7.1","FLJ37974","RSPH6B","CILD11"],"biotype":"protein_coding","hgnc_id":"HGNC:21558","gene_name":"radial spoke head 4 homolog A","omim_gene":["612647"],"alias_name":null,"gene_symbol":"RSPH4A","hgnc_symbol":"RSPH4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116937642-116954148","ensembl_id":"ENSG00000111834"}},"GRch38":{"90":{"location":"6:116616479-116632985","ensembl_id":"ENSG00000111834"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH4A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ciliary dyskinesia, primary, 11 (MIM#612649)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30845","CILD12"],"biotype":"protein_coding","hgnc_id":"HGNC:21057","gene_name":"radial spoke head 9 homolog","omim_gene":["612648"],"alias_name":null,"gene_symbol":"RSPH9","hgnc_symbol":"RSPH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43612783-43640336","ensembl_id":"ENSG00000172426"}},"GRch38":{"90":{"location":"6:43645046-43672599","ensembl_id":"ENSG00000172426"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ciliary dyskinesia, primary, 12 (MIM#612650)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AML3","PEBP2A1","PEBP2aA1"],"biotype":"protein_coding","hgnc_id":"HGNC:10472","gene_name":"runt related transcription factor 2","omim_gene":["600211"],"alias_name":null,"gene_symbol":"RUNX2","hgnc_symbol":"RUNX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:45295894-45632086","ensembl_id":"ENSG00000124813"}},"GRch38":{"90":{"location":"6:45328157-45664349","ensembl_id":"ENSG00000124813"}}},"hgnc_date_symbol_changed":"1994-11-02"},"entity_type":"gene","entity_name":"RUNX2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cleidocranial dysplasia MIM#119600","Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600","Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600","Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RYR","PPP1R137"],"biotype":"protein_coding","hgnc_id":"HGNC:10483","gene_name":"ryanodine receptor 1","omim_gene":["180901"],"alias_name":["protein phosphatase 1, regulatory subunit 137"],"gene_symbol":"RYR1","hgnc_symbol":"RYR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38924339-39078204","ensembl_id":"ENSG00000196218"}},"GRch38":{"90":{"location":"19:38433699-38587564","ensembl_id":"ENSG00000196218"}}},"hgnc_date_symbol_changed":"1989-12-01"},"entity_type":"gene","entity_name":"RYR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category B gene","BabySeq Category A gene","BeginNGS"],"phenotypes":["{Malignant hyperthermia susceptibility 1} MIM#145600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["pharmacogenomic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARVC2","VTSIP"],"biotype":"protein_coding","hgnc_id":"HGNC:10484","gene_name":"ryanodine receptor 2","omim_gene":["180902"],"alias_name":null,"gene_symbol":"RYR2","hgnc_symbol":"RYR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:237205505-237997288","ensembl_id":"ENSG00000198626"}},"GRch38":{"90":{"location":"1:237042205-237833988","ensembl_id":"ENSG00000198626"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"RYR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 2","Ventricular tachycardia, catecholaminergic polymorphic"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARSACS","KIAA0730","DKFZp686B15167","DNAJC29","SPAX6","PPP1R138"],"biotype":"protein_coding","hgnc_id":"HGNC:10519","gene_name":"sacsin molecular chaperone","omim_gene":["604490"],"alias_name":["protein phosphatase 1, regulatory subunit 138"],"gene_symbol":"SACS","hgnc_symbol":"SACS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:23902965-24007841","ensembl_id":"ENSG00000151835"}},"GRch38":{"90":{"location":"13:23328826-23411513","ensembl_id":"ENSG00000151835"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"SACS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spastic ataxia, Charlevoix-Saguenay type MIM#270550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Hsal1","ZNF794"],"biotype":"protein_coding","hgnc_id":"HGNC:10524","gene_name":"spalt like transcription factor 1","omim_gene":["602218"],"alias_name":null,"gene_symbol":"SALL1","hgnc_symbol":"SALL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:51169886-51185278","ensembl_id":"ENSG00000103449"}},"GRch38":{"90":{"location":"16:51135975-51151367","ensembl_id":"ENSG00000103449"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"SALL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Townes-Brocks syndrome 1, MIM#107480"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBBI88","Mg11","HDDC1","MOP-5","AGS5"],"biotype":"protein_coding","hgnc_id":"HGNC:15925","gene_name":"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","omim_gene":["606754"],"alias_name":["HD domain containing 1","monocyte protein 5","Aicardi-Goutieres syndrome 5"],"gene_symbol":"SAMHD1","hgnc_symbol":"SAMHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:35518632-35580246","ensembl_id":"ENSG00000101347"}},"GRch38":{"90":{"location":"20:36890229-36951843","ensembl_id":"ENSG00000101347"}}},"hgnc_date_symbol_changed":"2001-07-31"},"entity_type":"gene","entity_name":"SAMHD1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32877590"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Aicardi-Goutieres syndrome 5, MIM# 612952"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","treatable","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-97","FLJ10917","SDS","SWDS"],"biotype":"protein_coding","hgnc_id":"HGNC:19440","gene_name":"SBDS, ribosome maturation factor","omim_gene":["607444"],"alias_name":null,"gene_symbol":"SBDS","hgnc_symbol":"SBDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:66452664-66460588","ensembl_id":"ENSG00000126524"}},"GRch38":{"90":{"location":"7:66987677-66995601","ensembl_id":"ENSG00000126524"}}},"hgnc_date_symbol_changed":"2003-07-02"},"entity_type":"gene","entity_name":"SBDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22191555","20301722"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Shwachman-Diamond syndrome, MIM# 260400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological","gastrointestinal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.9","NaN","SNS-2"],"biotype":"protein_coding","hgnc_id":"HGNC:10583","gene_name":"sodium voltage-gated channel alpha subunit 11","omim_gene":["604385"],"alias_name":null,"gene_symbol":"SCN11A","hgnc_symbol":"SCN11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38887260-38992052","ensembl_id":"ENSG00000168356"}},"GRch38":{"90":{"location":"3:38845769-38950561","ensembl_id":"ENSG00000168356"}}},"hgnc_date_symbol_changed":"1998-11-06"},"entity_type":"gene","entity_name":"SCN11A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301494"],"evidence":["Expert Review Red","BabySeq Category A gene","BeginNGS"],"phenotypes":["Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403","Developmental and epileptic encephalopathy 6B, non-Dravet\t, MIM#619317"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.2","HBSCII","HBSCI"],"biotype":"protein_coding","hgnc_id":"HGNC:10588","gene_name":"sodium voltage-gated channel alpha subunit 2","omim_gene":["182390"],"alias_name":null,"gene_symbol":"SCN2A","hgnc_symbol":"SCN2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166095912-166248818","ensembl_id":"ENSG00000136531"}},"GRch38":{"90":{"location":"2:165194993-165392310","ensembl_id":"ENSG00000136531"}}},"hgnc_date_symbol_changed":"2007-01-23"},"entity_type":"gene","entity_name":"SCN2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Developmental and epileptic encephalopathy 11, MIM#\t613721"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.3"],"biotype":"protein_coding","hgnc_id":"HGNC:10590","gene_name":"sodium voltage-gated channel alpha subunit 3","omim_gene":["182391"],"alias_name":null,"gene_symbol":"SCN3A","hgnc_symbol":"SCN3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:165944032-166060577","ensembl_id":"ENSG00000153253"}},"GRch38":{"90":{"location":"2:165087522-165204067","ensembl_id":"ENSG00000153253"}}},"hgnc_date_symbol_changed":"1992-04-10"},"entity_type":"gene","entity_name":"SCN3A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["34081427"],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Epileptic encephalopathy, early infantile, 62, MIM# 617938"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.4","HYPP","SkM1"],"biotype":"protein_coding","hgnc_id":"HGNC:10591","gene_name":"sodium voltage-gated channel alpha subunit 4","omim_gene":["603967"],"alias_name":null,"gene_symbol":"SCN4A","hgnc_symbol":"SCN4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62015914-62050278","ensembl_id":"ENSG00000007314"}},"GRch38":{"90":{"location":"17:63938554-63972918","ensembl_id":"ENSG00000007314"}}},"hgnc_date_symbol_changed":"1990-09-30"},"entity_type":"gene","entity_name":"SCN4A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","BabySeq Category A gene","Expert Review Red","BeginNGS"],"phenotypes":["Hyperkalemic periodic paralysis, type 2, MIM# 170500","Hypokalemic periodic paralysis, type 2","Paramyotonia congenita , MIM#168300","Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390","Myasthenic syndrome, congenital, 16, MIM# 614198","Hyperkalemic periodic paralysis, type 2","Hypokalemic periodic paralysis, type 2, MIM# 613345"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.5","LQT3","HB1","HBBD","PFHB1","IVF","HB2","HH1","SSS1","CDCD2","CMPD2","ICCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10593","gene_name":"sodium voltage-gated channel alpha subunit 5","omim_gene":["600163"],"alias_name":["long QT syndrome 3"],"gene_symbol":"SCN5A","hgnc_symbol":"SCN5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38589548-38691164","ensembl_id":"ENSG00000183873"}},"GRch38":{"90":{"location":"3:38548057-38649673","ensembl_id":"ENSG00000183873"}}},"hgnc_date_symbol_changed":"1992-04-10"},"entity_type":"gene","entity_name":"SCN5A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene","BeginNGS"],"phenotypes":["Long QT syndrome 3 (MIM#603830)","Brugada syndrome 1, MIM# 601144"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Developmental and epileptic encephalopathy 13, MIM#614558"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ENaCalpha"],"biotype":"protein_coding","hgnc_id":"HGNC:10599","gene_name":"sodium channel epithelial 1 alpha subunit","omim_gene":["600228"],"alias_name":null,"gene_symbol":"SCNN1A","hgnc_symbol":"SCNN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6456009-6486896","ensembl_id":"ENSG00000111319"}},"GRch38":{"90":{"location":"12:6346843-6377730","ensembl_id":"ENSG00000111319"}}},"hgnc_date_symbol_changed":"1994-07-12"},"entity_type":"gene","entity_name":"SCNN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Pseudohypoaldosteronism, type I, MIM# 264350"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ENaCbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:10600","gene_name":"sodium channel epithelial 1 beta subunit","omim_gene":["600760"],"alias_name":["Liddle syndrome"],"gene_symbol":"SCNN1B","hgnc_symbol":"SCNN1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23289552-23392620","ensembl_id":"ENSG00000168447"}},"GRch38":{"90":{"location":"16:23278231-23381299","ensembl_id":"ENSG00000168447"}}},"hgnc_date_symbol_changed":"1994-12-20"},"entity_type":"gene","entity_name":"SCNN1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene","BeginNGS"],"phenotypes":["Pseudohypoaldosteronism, type I MIM# 264350"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ENaCgamma","SCNEG"],"biotype":"protein_coding","hgnc_id":"HGNC:10602","gene_name":"sodium channel epithelial 1 gamma subunit","omim_gene":["600761"],"alias_name":null,"gene_symbol":"SCNN1G","hgnc_symbol":"SCNN1G","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23194036-23228204","ensembl_id":"ENSG00000166828"}},"GRch38":{"90":{"location":"16:23182715-23216883","ensembl_id":"ENSG00000166828"}}},"hgnc_date_symbol_changed":"1995-05-10"},"entity_type":"gene","entity_name":"SCNN1G","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Pseudohypoaldosteronism, type I, MIM#\t264350"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCO1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10604","gene_name":"SCO2, cytochrome c oxidase assembly protein","omim_gene":["604272"],"alias_name":null,"gene_symbol":"SCO2","hgnc_symbol":"SCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50961997-50964868","ensembl_id":"ENSG00000130489"}},"GRch38":{"90":{"location":"22:50523568-50525606","ensembl_id":"ENSG00000130489"}}},"hgnc_date_symbol_changed":"1999-10-12"},"entity_type":"gene","entity_name":"SCO2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cybS"],"biotype":"protein_coding","hgnc_id":"HGNC:10683","gene_name":"succinate dehydrogenase complex subunit D","omim_gene":["602690"],"alias_name":["small subunit of cytochrome b"],"gene_symbol":"SDHD","hgnc_symbol":"SDHD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111957497-111990353","ensembl_id":"ENSG00000204370"}},"GRch38":{"90":{"location":"11:112086773-112120013","ensembl_id":"ENSG00000204370"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"SDHD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167","Paragangliomas 1, with or without deafness, MIM# 168000"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SELN","RSS"],"biotype":"protein_coding","hgnc_id":"HGNC:15999","gene_name":"selenoprotein N","omim_gene":["606210"],"alias_name":null,"gene_symbol":"SELENON","hgnc_symbol":"SELENON","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26126667-26144713","ensembl_id":"ENSG00000162430"}},"GRch38":{"90":{"location":"1:25800176-25818224","ensembl_id":"ENSG00000162430"}}},"hgnc_date_symbol_changed":"2016-09-21"},"entity_type":"gene","entity_name":"SELENON","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Myopathy, congenital, with fiber-type disproportion, MIM# 255310"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AAT","A1A","PI1","alpha-1-antitrypsin","A1AT","alpha1AT"],"biotype":"protein_coding","hgnc_id":"HGNC:8941","gene_name":"serpin family A member 1","omim_gene":["107400"],"alias_name":["protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"],"gene_symbol":"SERPINA1","hgnc_symbol":"SERPINA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:94843084-94857030","ensembl_id":"ENSG00000197249"}},"GRch38":{"90":{"location":"14:94376747-94390693","ensembl_id":"ENSG00000197249"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SERPINA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEB","KIAA0437"],"biotype":"protein_coding","hgnc_id":"HGNC:15573","gene_name":"SET binding protein 1","omim_gene":["611060"],"alias_name":null,"gene_symbol":"SETBP1","hgnc_symbol":"SETBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:42260138-42648475","ensembl_id":"ENSG00000152217"}},"GRch38":{"90":{"location":"18:44680173-45068510","ensembl_id":"ENSG00000152217"}}},"hgnc_date_symbol_changed":"2001-06-05"},"entity_type":"gene","entity_name":"SETBP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Schinzel-Giedion midface retraction syndrome, MIM# 269150"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0625","AOA2","Sen1"],"biotype":"protein_coding","hgnc_id":"HGNC:445","gene_name":"senataxin","omim_gene":["608465"],"alias_name":null,"gene_symbol":"SETX","hgnc_symbol":"SETX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135136743-135230372","ensembl_id":"ENSG00000107290"}},"GRch38":{"90":{"location":"9:132261356-132354985","ensembl_id":"ENSG00000107290"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"SETX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 1, 606002"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SP-B"],"biotype":"protein_coding","hgnc_id":"HGNC:10801","gene_name":"surfactant protein B","omim_gene":["178640"],"alias_name":null,"gene_symbol":"SFTPB","hgnc_symbol":"SFTPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:85884437-85895864","ensembl_id":"ENSG00000168878"}},"GRch38":{"90":{"location":"2:85657314-85668741","ensembl_id":"ENSG00000168878"}}},"hgnc_date_symbol_changed":"1988-07-06"},"entity_type":"gene","entity_name":"SFTPB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SP-C","PSP-C","SMDP2","BRICD6"],"biotype":"protein_coding","hgnc_id":"HGNC:10802","gene_name":"surfactant protein C","omim_gene":["178620"],"alias_name":["BRICHOS domain containing 6"],"gene_symbol":"SFTPC","hgnc_symbol":"SFTPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:22014426-22021992","ensembl_id":"ENSG00000168484"}},"GRch38":{"90":{"location":"8:22156913-22164479","ensembl_id":"ENSG00000168484"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"SFTPC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCARMD1","LGMD2D","adhalin","DMDA2","A2"],"biotype":"protein_coding","hgnc_id":"HGNC:10805","gene_name":"sarcoglycan alpha","omim_gene":["600119"],"alias_name":["50kD DAG","adhalin","limb girdle muscular dystrophy 2D"],"gene_symbol":"SGCA","hgnc_symbol":"SGCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48241575-48253292","ensembl_id":"ENSG00000108823"}},"GRch38":{"90":{"location":"17:50164214-50175931","ensembl_id":"ENSG00000108823"}}},"hgnc_date_symbol_changed":"1994-12-14"},"entity_type":"gene","entity_name":"SGCA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SGC","A3b"],"biotype":"protein_coding","hgnc_id":"HGNC:10806","gene_name":"sarcoglycan beta","omim_gene":["600900"],"alias_name":null,"gene_symbol":"SGCB","hgnc_symbol":"SGCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:52886872-52904648","ensembl_id":"ENSG00000163069"}},"GRch38":{"90":{"location":"4:52020706-52038482","ensembl_id":"ENSG00000163069"}}},"hgnc_date_symbol_changed":"1995-01-24"},"entity_type":"gene","entity_name":"SGCB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAGD","LGMD2F","CMD1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10807","gene_name":"sarcoglycan delta","omim_gene":["601411"],"alias_name":null,"gene_symbol":"SGCD","hgnc_symbol":"SGCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:155297354-156194799","ensembl_id":"ENSG00000170624"}},"GRch38":{"90":{"location":"5:155870344-156767788","ensembl_id":"ENSG00000170624"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"SGCD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCARMD2","DAGA4","SCG3","DMDA","TYPE","A4","MGC130048"],"biotype":"protein_coding","hgnc_id":"HGNC:10809","gene_name":"sarcoglycan gamma","omim_gene":["608896"],"alias_name":["Maghrebian myopathy (autosomal recessive)","35kD dystrophin-associated glycoprotein","limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)","gamma sarcoglycan"],"gene_symbol":"SGCG","hgnc_symbol":"SGCG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:23755091-23899304","ensembl_id":"ENSG00000102683"}},"GRch38":{"90":{"location":"13:23180952-23325165","ensembl_id":"ENSG00000102683"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"SGCG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","MPS3A","SFMD"],"biotype":"protein_coding","hgnc_id":"HGNC:10818","gene_name":"N-sulfoglucosamine sulfohydrolase","omim_gene":["605270"],"alias_name":["sulfamidase","mucopolysaccharidosis type IIIA"],"gene_symbol":"SGSH","hgnc_symbol":"SGSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78180515-78194722","ensembl_id":"ENSG00000181523"}},"GRch38":{"90":{"location":"17:80206716-80220923","ensembl_id":"ENSG00000181523"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"SGSH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["31044143"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["clinical trial"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XLP","MTCP1","DSHP","XLPD","EBVS","SAP"],"biotype":"protein_coding","hgnc_id":"HGNC:10820","gene_name":"SH2 domain containing 1A","omim_gene":["300490"],"alias_name":["Duncan's disease"],"gene_symbol":"SH2D1A","hgnc_symbol":"SH2D1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:123480194-123507005","ensembl_id":"ENSG00000183918"}},"GRch38":{"90":{"location":"X:124227868-124373197","ensembl_id":"ENSG00000183918"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"SH2D1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301580"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Lymphoproliferative syndrome, X-linked, 1, MIM# 308240"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1985","CMT4C"],"biotype":"protein_coding","hgnc_id":"HGNC:29427","gene_name":"SH3 domain and tetratricopeptide repeats 2","omim_gene":["608206"],"alias_name":null,"gene_symbol":"SH3TC2","hgnc_symbol":"SH3TC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:148303202-148442726","ensembl_id":"ENSG00000169247"}},"GRch38":{"90":{"location":"5:148923639-149063163","ensembl_id":"ENSG00000169247"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"SH3TC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot-Marie-Tooth disease, type 4C MIM#601596"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPANK-2","prosap2","KIAA1650","PSAP2"],"biotype":"protein_coding","hgnc_id":"HGNC:14294","gene_name":"SH3 and multiple ankyrin repeat domains 3","omim_gene":["606230"],"alias_name":["proline rich synapse associated protein 2","shank postsynaptic density protein"],"gene_symbol":"SHANK3","hgnc_symbol":"SHANK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51112843-51171726","ensembl_id":"ENSG00000251322"}},"GRch38":{"90":{"location":"22:50674415-50733298","ensembl_id":"ENSG00000251322"}}},"hgnc_date_symbol_changed":"2002-02-22"},"entity_type":"gene","entity_name":"SHANK3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17173049","30842224","16284256","20186804","22892527"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Phelan-McDermid syndrome, MIM# 606232","MONDO:0011652"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HHG1","SMMCI","TPT","TPTPS","MCOPCB5"],"biotype":"protein_coding","hgnc_id":"HGNC:10848","gene_name":"sonic hedgehog","omim_gene":["600725"],"alias_name":null,"gene_symbol":"SHH","hgnc_symbol":"SHH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:155592680-155604967","ensembl_id":"ENSG00000164690"}},"GRch38":{"90":{"location":"7:155799986-155812273","ensembl_id":"ENSG00000164690"}}},"hgnc_date_symbol_changed":"1995-03-10"},"entity_type":"gene","entity_name":"SHH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Holoprosencephaly 3, MIM#142945"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10856","gene_name":"sucrase-isomaltase","omim_gene":["609845"],"alias_name":["Oligosaccharide alpha-1,6-glucosidase","alpha-glucosidase"],"gene_symbol":"SI","hgnc_symbol":"SI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:164696686-164796283","ensembl_id":"ENSG00000090402"}},"GRch38":{"90":{"location":"3:164978898-165078495","ensembl_id":"ENSG00000090402"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Sucrase-isomaltase deficiency, congenital, MIM#\t222900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","gastrointestinal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null}]}