{"count":35518,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=334","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=332","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:186","gene_name":"adenosine deaminase","omim_gene":["608958"],"alias_name":null,"gene_symbol":"ADA","hgnc_symbol":"ADA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43248163-43280874","ensembl_id":"ENSG00000196839"}},"GRch38":{"90":{"location":"20:44619522-44652233","ensembl_id":"ENSG00000196839"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33974366"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32894695"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","vascular"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SKR1","ALK2","ACVR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:171","gene_name":"activin A receptor type 1","omim_gene":["102576"],"alias_name":null,"gene_symbol":"ACVR1","hgnc_symbol":"ACVR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:158592958-158732374","ensembl_id":"ENSG00000115170"}},"GRch38":{"90":{"location":"2:157736444-157875862","ensembl_id":"ENSG00000115170"}}},"hgnc_date_symbol_changed":"1994-01-10"},"entity_type":"gene","entity_name":"ACVR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16642017","29089047","35384641"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Fibrodysplasia ossificans progressiva, MIM# 135100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:166","gene_name":"actinin alpha 4","omim_gene":["604638"],"alias_name":null,"gene_symbol":"ACTN4","hgnc_symbol":"ACTN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39138289-39222223","ensembl_id":"ENSG00000130402"}},"GRch38":{"90":{"location":"19:38647649-38731583","ensembl_id":"ENSG00000130402"}}},"hgnc_date_symbol_changed":"1992-03-26"},"entity_type":"gene","entity_name":"ACTN4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Glomerulosclerosis, focal segmental, 1, MIM#603278"],"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:163","gene_name":"actinin alpha 1","omim_gene":["102575"],"alias_name":null,"gene_symbol":"ACTN1","hgnc_symbol":"ACTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:69340860-69446157","ensembl_id":"ENSG00000072110"}},"GRch38":{"90":{"location":"14:68874143-68979440","ensembl_id":"ENSG00000072110"}}},"hgnc_date_symbol_changed":"1990-08-21"},"entity_type":"gene","entity_name":"ACTN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bleeding disorder, platelet-type, 15, MIM# 615193"],"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":["ACTSG"],"biotype":"protein_coding","hgnc_id":"HGNC:145","gene_name":"actin, gamma 2, smooth muscle, enteric","omim_gene":["102545"],"alias_name":null,"gene_symbol":"ACTG2","hgnc_symbol":"ACTG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74119441-74146992","ensembl_id":"ENSG00000163017"}},"GRch38":{"90":{"location":"2:73892314-73919865","ensembl_id":"ENSG00000163017"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"ACTG2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Visceral myopathy, MIM#155310","Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431"],"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:144","gene_name":"actin gamma 1","omim_gene":["102560"],"alias_name":null,"gene_symbol":"ACTG1","hgnc_symbol":"ACTG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79476997-79490873","ensembl_id":"ENSG00000184009"}},"GRch38":{"90":{"location":"17:81509971-81523847","ensembl_id":"ENSG00000184009"}}},"hgnc_date_symbol_changed":"1988-06-27"},"entity_type":"gene","entity_name":"ACTG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Baraitser-Winter syndrome 2MIM#614583","Deafness, autosomal dominant 20/26 MIM#604717"],"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":["PALMCOX"],"biotype":"protein_coding","hgnc_id":"HGNC:119","gene_name":"acyl-CoA oxidase 1","omim_gene":["609751"],"alias_name":["palmitoyl-CoA oxidase"],"gene_symbol":"ACOX1","hgnc_symbol":"ACOX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73937588-73975515","ensembl_id":"ENSG00000161533"}},"GRch38":{"90":{"location":"17:75941507-75979363","ensembl_id":"ENSG00000161533"}}},"hgnc_date_symbol_changed":"1994-02-11"},"entity_type":"gene","entity_name":"ACOX1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32169171","17458872"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470","Mitchell syndrome, MIM# 618960"],"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":["ACE1","CD143"],"biotype":"protein_coding","hgnc_id":"HGNC:2707","gene_name":"angiotensin I converting enzyme","omim_gene":["106180"],"alias_name":["peptidyl-dipeptidase A"],"gene_symbol":"ACE","hgnc_symbol":"ACE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61554422-61599205","ensembl_id":"ENSG00000159640"}},"GRch38":{"90":{"location":"17:63477061-63498380","ensembl_id":"ENSG00000159640"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"ACE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16116425","22095942"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Renal tubular dysgenesis, MIM# 267430"],"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":["THIL"],"biotype":"protein_coding","hgnc_id":"HGNC:93","gene_name":"acetyl-CoA acetyltransferase 1","omim_gene":["607809"],"alias_name":["acetoacetyl Coenzyme A thiolase"],"gene_symbol":"ACAT1","hgnc_symbol":"ACAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:107992243-108018503","ensembl_id":"ENSG00000075239"}},"GRch38":{"90":{"location":"11:108121516-108147776","ensembl_id":"ENSG00000075239"}}},"hgnc_date_symbol_changed":"1991-08-12"},"entity_type":"gene","entity_name":"ACAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Alpha-methylacetoacetic aciduria, MIM#203750"],"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":["VLCAD","LCACD","ACAD6"],"biotype":"protein_coding","hgnc_id":"HGNC:92","gene_name":"acyl-CoA dehydrogenase very long chain","omim_gene":["609575"],"alias_name":null,"gene_symbol":"ACADVL","hgnc_symbol":"ACADVL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7120444-7128592","ensembl_id":"ENSG00000072778"}},"GRch38":{"90":{"location":"17:7217125-7225273","ensembl_id":"ENSG00000072778"}}},"hgnc_date_symbol_changed":"1996-05-30"},"entity_type":"gene","entity_name":"ACADVL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31372341","32885845"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["VLCAD deficiency, MIM#201475"],"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":["MCAD","MCADH","ACAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:89","gene_name":"acyl-CoA dehydrogenase medium chain","omim_gene":["607008"],"alias_name":["medium-chain acyl-CoA dehydrogenase"],"gene_symbol":"ACADM","hgnc_symbol":"ACADM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:76190036-76253260","ensembl_id":"ENSG00000117054"}},"GRch38":{"90":{"location":"1:75724347-75787575","ensembl_id":"ENSG00000117054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACADM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Medium chain acyl CoA dehydrogenase deficiency, MIM#201450"],"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":["NPD002","MGC14452"],"biotype":"protein_coding","hgnc_id":"HGNC:21497","gene_name":"acyl-CoA dehydrogenase family member 9","omim_gene":["611103"],"alias_name":null,"gene_symbol":"ACAD9","hgnc_symbol":"ACAD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128598439-128634910","ensembl_id":"ENSG00000177646"}},"GRch38":{"90":{"location":"3:128879596-128916067","ensembl_id":"ENSG00000177646"}}},"hgnc_date_symbol_changed":"2003-06-18"},"entity_type":"gene","entity_name":"ACAD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 20, MIM#611126"],"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:87","gene_name":"acyl-CoA dehydrogenase family member 8","omim_gene":["604773"],"alias_name":null,"gene_symbol":"ACAD8","hgnc_symbol":"ACAD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:134123389-134135749","ensembl_id":"ENSG00000151498"}},"GRch38":{"90":{"location":"11:134253495-134265855","ensembl_id":"ENSG00000151498"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"ACAD8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Isobutyryl-CoA dehydrogenase deficiency MIM#611283"],"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":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Sitosterolaemia 2, MIM# 618666"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMP69","P70R","EST352188"],"biotype":"protein_coding","hgnc_id":"HGNC:68","gene_name":"ATP binding cassette subfamily D member 4","omim_gene":["603214"],"alias_name":null,"gene_symbol":"ABCD4","hgnc_symbol":"ABCD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74752126-74769759","ensembl_id":"ENSG00000119688"}},"GRch38":{"90":{"location":"14:74285423-74303056","ensembl_id":"ENSG00000119688"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22922874","30651581","28572511","31113616","33729671"],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857"],"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":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Adrenoleukodystrophy, MIM# 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HI","PHHI","SUR1","MRP8","ABC36","HHF1","TNDM2"],"biotype":"protein_coding","hgnc_id":"HGNC:59","gene_name":"ATP binding cassette subfamily C member 8","omim_gene":["600509"],"alias_name":["sulfonylurea receptor (hyperinsulinemia)"],"gene_symbol":"ABCC8","hgnc_symbol":"ABCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17414432-17498449","ensembl_id":"ENSG00000006071"}},"GRch38":{"90":{"location":"11:17392885-17476845","ensembl_id":"ENSG00000006071"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"ABCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Hyperinsulinemic hypoglycemia, familial, MIM#256450"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33005041","34355424"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Arterial calcification, generalized, of infancy, 2, #MIM614473"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","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":["DJS","MRP2","cMRP"],"biotype":"protein_coding","hgnc_id":"HGNC:53","gene_name":"ATP binding cassette subfamily C member 2","omim_gene":["601107"],"alias_name":null,"gene_symbol":"ABCC2","hgnc_symbol":"ABCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:101542489-101611949","ensembl_id":"ENSG00000023839"}},"GRch38":{"90":{"location":"10:99782732-99852192","ensembl_id":"ENSG00000023839"}}},"hgnc_date_symbol_changed":"1997-05-09"},"entity_type":"gene","entity_name":"ABCC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11477083","30344695"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Dubin-Johnson syndrome, MIM# 237500"],"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":["MDR2","PFIC-3","GBD1"],"biotype":"protein_coding","hgnc_id":"HGNC:45","gene_name":"ATP binding cassette subfamily B member 4","omim_gene":["171060"],"alias_name":null,"gene_symbol":"ABCB4","hgnc_symbol":"ABCB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:87031013-87109751","ensembl_id":"ENSG00000005471"}},"GRch38":{"90":{"location":"7:87401697-87480435","ensembl_id":"ENSG00000005471"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ABCB4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cholestasis, progressive familial intrahepatic 3 MIM#602347","disorder of bile acid metabolism","Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972)","Gallbladder disease 1 (MIM#600803)"],"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":["ABC16","SPGP","PFIC-2","PGY4"],"biotype":"protein_coding","hgnc_id":"HGNC:42","gene_name":"ATP binding cassette subfamily B member 11","omim_gene":["603201"],"alias_name":["ABC member 16, MDR/TAP subfamily"],"gene_symbol":"ABCB11","hgnc_symbol":"ABCB11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169779448-169887832","ensembl_id":"ENSG00000073734"}},"GRch38":{"90":{"location":"2:168922938-169031322","ensembl_id":"ENSG00000073734"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"ABCB11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cholestasis, progressive familial intrahepatic 2, MIM# 601847","Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479"],"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":["FFM","ARMD2","CORD3"],"biotype":"protein_coding","hgnc_id":"HGNC:34","gene_name":"ATP binding cassette subfamily A member 4","omim_gene":["601691"],"alias_name":["Stargardt disease"],"gene_symbol":"ABCA4","hgnc_symbol":"ABCA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:94458393-94586688","ensembl_id":"ENSG00000198691"}},"GRch38":{"90":{"location":"1:93992835-94121132","ensembl_id":"ENSG00000198691"}}},"hgnc_date_symbol_changed":"1994-07-14"},"entity_type":"gene","entity_name":"ABCA4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cone-rod dystrophy 3, 604116","Fundus flavimaculatus, 248200","Retinal dystrophy, early-onset severe, 248200","Retinitis pigmentosa 19, 601718","Stargardt disease 1, 248200"],"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":["ABC-C","EST111653","LBM180"],"biotype":"protein_coding","hgnc_id":"HGNC:33","gene_name":"ATP binding cassette subfamily A member 3","omim_gene":["601615"],"alias_name":null,"gene_symbol":"ABCA3","hgnc_symbol":"ABCA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2325882-2390747","ensembl_id":"ENSG00000167972"}},"GRch38":{"90":{"location":"16:2275881-2340746","ensembl_id":"ENSG00000167972"}}},"hgnc_date_symbol_changed":"1996-08-08"},"entity_type":"gene","entity_name":"ABCA3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921"],"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":["DKFZP434G232","LI2"],"biotype":"protein_coding","hgnc_id":"HGNC:14637","gene_name":"ATP binding cassette subfamily A member 12","omim_gene":["607800"],"alias_name":null,"gene_symbol":"ABCA12","hgnc_symbol":"ABCA12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:215796266-216003151","ensembl_id":"ENSG00000144452"}},"GRch38":{"90":{"location":"2:214931542-215138428","ensembl_id":"ENSG00000144452"}}},"hgnc_date_symbol_changed":"2001-08-16"},"entity_type":"gene","entity_name":"ABCA12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 4A (MIM#601277)","Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)"],"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":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Epileptic encephalopathy, early infantile, 29, MIM# 616339","Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13666","gene_name":"aladin WD repeat nucleoporin","omim_gene":["605378"],"alias_name":["aladin","Allgrove, triple-A","adracalin"],"gene_symbol":"AAAS","hgnc_symbol":"AAAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53701240-53718648","ensembl_id":"ENSG00000094914"}},"GRch38":{"90":{"location":"12:53307456-53324864","ensembl_id":"ENSG00000094914"}}},"hgnc_date_symbol_changed":"2000-11-08"},"entity_type":"gene","entity_name":"AAAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29255950"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Achalasia-addisonianism-alacrimia syndrome, MIM#231550"],"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bloom syndrome, MIM# 210900"],"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":["SH3P9","AMPH2"],"biotype":"protein_coding","hgnc_id":"HGNC:1052","gene_name":"bridging integrator 1","omim_gene":["601248"],"alias_name":["amphiphysin II"],"gene_symbol":"BIN1","hgnc_symbol":"BIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:127805603-127864931","ensembl_id":"ENSG00000136717"}},"GRch38":{"90":{"location":"2:127048027-127107355","ensembl_id":"ENSG00000136717"}}},"hgnc_date_symbol_changed":"2000-05-19"},"entity_type":"gene","entity_name":"BIN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Centronuclear myopathy 2, MIM# 255200"],"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":["KIAA0699"],"biotype":"protein_coding","hgnc_id":"HGNC:17208","gene_name":"BICD cargo adaptor 2","omim_gene":["609797"],"alias_name":null,"gene_symbol":"BICD2","hgnc_symbol":"BICD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:95473645-95527094","ensembl_id":"ENSG00000185963"}},"GRch38":{"90":{"location":"9:92711363-92764812","ensembl_id":"ENSG00000185963"}}},"hgnc_date_symbol_changed":"2003-11-14"},"entity_type":"gene","entity_name":"BICD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23664116","23664119","23664120","27751653","28635954","30054298","29528393","35896821"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290","MONDO:0014121","Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291","Neurodevelopmental disorder (MONDO#0700092), BICD2-related"],"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":["Hs.6719","BCS","h-BCS","BJS"],"biotype":"protein_coding","hgnc_id":"HGNC:1020","gene_name":"BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone","omim_gene":["603647"],"alias_name":["GRACILE syndrome","Bjornstad syndrome"],"gene_symbol":"BCS1L","hgnc_symbol":"BCS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219523487-219528166","ensembl_id":"ENSG00000074582"}},"GRch38":{"90":{"location":"2:218658764-218663443","ensembl_id":"ENSG00000074582"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"BCS1L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bjornstad syndrome, MIM# 262000","Leigh syndrome, MIM# 256000","BCS1L-related mitochondrial disease"],"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:16902","gene_name":"branched chain ketoacid dehydrogenase kinase","omim_gene":["614901"],"alias_name":null,"gene_symbol":"BCKDK","hgnc_symbol":"BCKDK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31117428-31124110","ensembl_id":"ENSG00000103507"}},"GRch38":{"90":{"location":"16:31106107-31112791","ensembl_id":"ENSG00000103507"}}},"hgnc_date_symbol_changed":"2005-01-20"},"entity_type":"gene","entity_name":"BCKDK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Branched-chain keto acid dehydrogenase kinase deficiency, MIM#\t614923"],"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:987","gene_name":"branched chain keto acid dehydrogenase E1 subunit beta","omim_gene":["248611"],"alias_name":["maple syrup urine disease","2-oxoisovalerate dehydrogenase subunit beta, mitochondrial"],"gene_symbol":"BCKDHB","hgnc_symbol":"BCKDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80816364-81055987","ensembl_id":"ENSG00000083123"}},"GRch38":{"90":{"location":"6:80106647-80346270","ensembl_id":"ENSG00000083123"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"BCKDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Maple syrup urine disease, type Ib, MIM# 248600"],"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":["MSU"],"biotype":"protein_coding","hgnc_id":"HGNC:986","gene_name":"branched chain keto acid dehydrogenase E1, alpha polypeptide","omim_gene":["608348"],"alias_name":["maple syrup urine disease"],"gene_symbol":"BCKDHA","hgnc_symbol":"BCKDHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41884215-41930910","ensembl_id":"ENSG00000248098"}},"GRch38":{"90":{"location":"19:41397460-41425005","ensembl_id":"ENSG00000248098"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"BCKDHA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Maple syrup urine disease, type Ia, MIM# 248600"],"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":["E1"],"biotype":"protein_coding","hgnc_id":"HGNC:983","gene_name":"butyrylcholinesterase","omim_gene":["177400"],"alias_name":null,"gene_symbol":"BCHE","hgnc_symbol":"BCHE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:165490692-165555260","ensembl_id":"ENSG00000114200"}},"GRch38":{"90":{"location":"3:165772904-165837472","ensembl_id":"ENSG00000114200"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BCHE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Butyrylcholinesterase deficiency, MIM#\t617936"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["pharmacogenomic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B1","PTHB1"],"biotype":"protein_coding","hgnc_id":"HGNC:30000","gene_name":"Bardet-Biedl syndrome 9","omim_gene":["607968"],"alias_name":["parathyroid hormone responsive B1 gene"],"gene_symbol":"BBS9","hgnc_symbol":"BBS9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:33168856-33645680","ensembl_id":"ENSG00000122507"}},"GRch38":{"90":{"location":"7:33129244-33606068","ensembl_id":"ENSG00000122507"}}},"hgnc_date_symbol_changed":"2007-01-18"},"entity_type":"gene","entity_name":"BBS9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 9, MIM#615986"],"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":["FLJ10715","BBS2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:18758","gene_name":"Bardet-Biedl syndrome 7","omim_gene":["607590"],"alias_name":null,"gene_symbol":"BBS7","hgnc_symbol":"BBS7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:122745595-122791652","ensembl_id":"ENSG00000138686"}},"GRch38":{"90":{"location":"4:121824440-121870497","ensembl_id":"ENSG00000138686"}}},"hgnc_date_symbol_changed":"2003-02-05"},"entity_type":"gene","entity_name":"BBS7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 7, MIM# 615984"],"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":["DKFZp762I194"],"biotype":"protein_coding","hgnc_id":"HGNC:970","gene_name":"Bardet-Biedl syndrome 5","omim_gene":["603650"],"alias_name":null,"gene_symbol":"BBS5","hgnc_symbol":"BBS5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:170335688-170382432","ensembl_id":"ENSG00000163093"}},"GRch38":{"90":{"location":"2:169479178-169506655","ensembl_id":"ENSG00000163093"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"BBS5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 5, MIM#615983"],"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:969","gene_name":"Bardet-Biedl syndrome 4","omim_gene":["600374"],"alias_name":null,"gene_symbol":"BBS4","hgnc_symbol":"BBS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72978527-73030817","ensembl_id":"ENSG00000140463"}},"GRch38":{"90":{"location":"15:72686179-72738476","ensembl_id":"ENSG00000140463"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"BBS4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 4, MIM#615982"],"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:967","gene_name":"Bardet-Biedl syndrome 2","omim_gene":["606151"],"alias_name":null,"gene_symbol":"BBS2","hgnc_symbol":"BBS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56500748-56554195","ensembl_id":"ENSG00000125124"}},"GRch38":{"90":{"location":"16:56466836-56520283","ensembl_id":"ENSG00000125124"}}},"hgnc_date_symbol_changed":"1993-10-26"},"entity_type":"gene","entity_name":"BBS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 2, MIM# 615981"],"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":["FLJ35630","FLJ41559"],"biotype":"protein_coding","hgnc_id":"HGNC:26648","gene_name":"Bardet-Biedl syndrome 12","omim_gene":["610683"],"alias_name":null,"gene_symbol":"BBS12","hgnc_symbol":"BBS12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123653857-123666098","ensembl_id":"ENSG00000181004"}},"GRch38":{"90":{"location":"4:122732702-122744943","ensembl_id":"ENSG00000181004"}}},"hgnc_date_symbol_changed":"2006-12-13"},"entity_type":"gene","entity_name":"BBS12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 12, MIM# 615989"],"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":["FLJ23560"],"biotype":"protein_coding","hgnc_id":"HGNC:26291","gene_name":"Bardet-Biedl syndrome 10","omim_gene":["610148"],"alias_name":null,"gene_symbol":"BBS10","hgnc_symbol":"BBS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:76738254-76742222","ensembl_id":"ENSG00000179941"}},"GRch38":{"90":{"location":"12:76344474-76348442","ensembl_id":"ENSG00000179941"}}},"hgnc_date_symbol_changed":"2006-04-28"},"entity_type":"gene","entity_name":"BBS10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 10, MIM# 615987"],"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":["FLJ23590"],"biotype":"protein_coding","hgnc_id":"HGNC:966","gene_name":"Bardet-Biedl syndrome 1","omim_gene":["209901"],"alias_name":null,"gene_symbol":"BBS1","hgnc_symbol":"BBS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66278077-66301098","ensembl_id":"ENSG00000174483"}},"GRch38":{"90":{"location":"11:66510606-66533627","ensembl_id":"ENSG00000174483"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"BBS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 1, MIM# 209900"],"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":["BAT"],"biotype":"protein_coding","hgnc_id":"HGNC:932","gene_name":"bile acid-CoA:amino acid N-acyltransferase","omim_gene":["602938"],"alias_name":["glycine N-choloyltransferase"],"gene_symbol":"BAAT","hgnc_symbol":"BAAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:104122699-104145801","ensembl_id":"ENSG00000136881"}},"GRch38":{"90":{"location":"9:101360417-101383519","ensembl_id":"ENSG00000136881"}}},"hgnc_date_symbol_changed":"1996-03-13"},"entity_type":"gene","entity_name":"BAAT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bile acid conjugation defect 1, MIM# 619232"],"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":["B3GTL","B3Glc-T"],"biotype":"protein_coding","hgnc_id":"HGNC:20207","gene_name":"beta 3-glucosyltransferase","omim_gene":["610308"],"alias_name":["beta-1,3-glucosyltransferase"],"gene_symbol":"B3GLCT","hgnc_symbol":"B3GLCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31774073-31906413","ensembl_id":"ENSG00000187676"}},"GRch38":{"90":{"location":"13:31199936-31332276","ensembl_id":"ENSG00000187676"}}},"hgnc_date_symbol_changed":"2015-06-04"},"entity_type":"gene","entity_name":"B3GLCT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Peters-plus syndrome, MIM#261540"],"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":["V2R"],"biotype":"protein_coding","hgnc_id":"HGNC:897","gene_name":"arginine vasopressin receptor 2","omim_gene":["300538"],"alias_name":["nephrogenic diabetes insipidus"],"gene_symbol":"AVPR2","hgnc_symbol":"AVPR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153167985-153172620","ensembl_id":"ENSG00000126895"}},"GRch38":{"90":{"location":"X:153902531-153907166","ensembl_id":"ENSG00000126895"}}},"hgnc_date_symbol_changed":"1992-02-28"},"entity_type":"gene","entity_name":"AVPR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diabetes insipidus, nephrogenic, MIM#304800"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV","treatable","clinical trial","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:890","gene_name":"AU RNA binding methylglutaconyl-CoA hydratase","omim_gene":["600529"],"alias_name":null,"gene_symbol":"AUH","hgnc_symbol":"AUH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:93976097-94124195","ensembl_id":"ENSG00000148090"}},"GRch38":{"90":{"location":"9:91213815-91361913","ensembl_id":"ENSG00000148090"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"AUH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["3-methylglutaconic aciduria, type I , MIM#250950"],"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; 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additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATPIC","PFIC"],"biotype":"protein_coding","hgnc_id":"HGNC:3706","gene_name":"ATPase phospholipid transporting 8B1","omim_gene":["602397"],"alias_name":null,"gene_symbol":"ATP8B1","hgnc_symbol":"ATP8B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:55313658-55470333","ensembl_id":"ENSG00000081923"}},"GRch38":{"90":{"location":"18:57646426-57803101","ensembl_id":"ENSG00000081923"}}},"hgnc_date_symbol_changed":"1996-12-17"},"entity_type":"gene","entity_name":"ATP8B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cholestasis, progressive familial intrahepatic 1, MIM# 211600","Cholestasis, benign recurrent intrahepatic, MIM# 243300"],"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:870","gene_name":"ATPase copper transporting beta","omim_gene":["606882"],"alias_name":["Wilson disease","copper pump 2","copper-transporting ATPase 2"],"gene_symbol":"ATP7B","hgnc_symbol":"ATP7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52506809-52585630","ensembl_id":"ENSG00000123191"}},"GRch38":{"90":{"location":"13:51930436-52012125","ensembl_id":"ENSG00000123191"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Wilson disease MIM#277900"],"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:869","gene_name":"ATPase copper transporting alpha","omim_gene":["300011"],"alias_name":["copper pump 1","copper-transporting ATPase 1"],"gene_symbol":"ATP7A","hgnc_symbol":"ATP7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77166194-77305892","ensembl_id":"ENSG00000165240"}},"GRch38":{"90":{"location":"X:77910656-78050395","ensembl_id":"ENSG00000165240"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30594472"],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Menkes disease, MIM# 309400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VATB","RTA1B","Vma2"],"biotype":"protein_coding","hgnc_id":"HGNC:853","gene_name":"ATPase H+ transporting V1 subunit B1","omim_gene":["192132"],"alias_name":["Renal tubular acidosis with deafness"],"gene_symbol":"ATP6V1B1","hgnc_symbol":"ATP6V1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71163012-71192536","ensembl_id":"ENSG00000116039"}},"GRch38":{"90":{"location":"2:70935882-70965406","ensembl_id":"ENSG00000116039"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","renal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RDRTA2","VPP2","RTADR","a4","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:866","gene_name":"ATPase H+ transporting V0 subunit a4","omim_gene":["605239"],"alias_name":null,"gene_symbol":"ATP6V0A4","hgnc_symbol":"ATP6V0A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:138391040-138484305","ensembl_id":"ENSG00000105929"}},"GRch38":{"90":{"location":"7:138706295-138799560","ensembl_id":"ENSG00000105929"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3\t602722"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","renal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TJ6","a2","TJ6s","TJ6M","ATP6a2","J6B7","ATP6N1D","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:18481","gene_name":"ATPase H+ transporting V0 subunit a2","omim_gene":["611716"],"alias_name":["infantile malignant osteopetrosis"],"gene_symbol":"ATP6V0A2","hgnc_symbol":"ATP6V0A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:124196865-124246302","ensembl_id":"ENSG00000185344"}},"GRch38":{"90":{"location":"12:123712318-123761755","ensembl_id":"ENSG00000185344"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"ATP6V0A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cutis laxa, autosomal recessive, type IIA, MIM# 219200","Wrinkly skin syndrome, MIM#278250"],"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":["PMCA2"],"biotype":"protein_coding","hgnc_id":"HGNC:815","gene_name":"ATPase plasma membrane Ca2+ transporting 2","omim_gene":["108733"],"alias_name":["plasma membrane Ca2+ pump 2","plasma membrane calcium-transporting ATPase 2"],"gene_symbol":"ATP2B2","hgnc_symbol":"ATP2B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10365707-10749716","ensembl_id":"ENSG00000157087"}},"GRch38":{"90":{"location":"3:10324023-10708031","ensembl_id":"ENSG00000157087"}}},"hgnc_date_symbol_changed":"1992-06-26"},"entity_type":"gene","entity_name":"ATP2B2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30535804"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal dominant 82, MIM# 619804"],"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":["SERCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:811","gene_name":"ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1","omim_gene":["108730"],"alias_name":["sarcoplasmic/endoplasmic reticulum calcium ATPase 1","calcium pump 1"],"gene_symbol":"ATP2A1","hgnc_symbol":"ATP2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28889726-28915830","ensembl_id":"ENSG00000196296"}},"GRch38":{"90":{"location":"16:28878405-28904509","ensembl_id":"ENSG00000196296"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"ATP2A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Brody myopathy, OMIM # 601003"],"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":["FHM2"],"biotype":"protein_coding","hgnc_id":"HGNC:800","gene_name":"ATPase Na+/K+ transporting subunit alpha 2","omim_gene":["182340"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-2","sodium pump subunit alpha-2","sodium-potassium ATPase catalytic subunit alpha-2"],"gene_symbol":"ATP1A2","hgnc_symbol":"ATP1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160085549-160113381","ensembl_id":"ENSG00000018625"}},"GRch38":{"90":{"location":"1:160115759-160143591","ensembl_id":"ENSG00000018625"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ATP1A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31608932","33880529"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Alternating hemiplegia of childhood 1, MIM#104290","Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602","Developmental and epileptic encephalopathy 98, MIM# 619605"],"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":["TEL1","TELO1"],"biotype":"protein_coding","hgnc_id":"HGNC:795","gene_name":"ATM serine/threonine kinase","omim_gene":["607585"],"alias_name":["TEL1, telomere maintenance 1, homolog (S. cerevisiae)"],"gene_symbol":"ATM","hgnc_symbol":"ATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108093211-108239829","ensembl_id":"ENSG00000149311"}},"GRch38":{"90":{"location":"11:108222484-108369102","ensembl_id":"ENSG00000149311"}}},"hgnc_date_symbol_changed":"1995-07-07"},"entity_type":"gene","entity_name":"ATM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ataxia-telangiectasia, MIM# 208900"],"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":["CTLN1"],"biotype":"protein_coding","hgnc_id":"HGNC:758","gene_name":"argininosuccinate synthase 1","omim_gene":["603470"],"alias_name":null,"gene_symbol":"ASS1","hgnc_symbol":"ASS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133320316-133376661","ensembl_id":"ENSG00000130707"}},"GRch38":{"90":{"location":"9:130444929-130501274","ensembl_id":"ENSG00000130707"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"ASS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Citrullinaemia, MIM#215700"],"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":["ASP","ACY2"],"biotype":"protein_coding","hgnc_id":"HGNC:756","gene_name":"aspartoacylase","omim_gene":["608034"],"alias_name":["aminoacylase 2","Canavan disease"],"gene_symbol":"ASPA","hgnc_symbol":"ASPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3375668-3406713","ensembl_id":"ENSG00000108381"}},"GRch38":{"90":{"location":"17:3472374-3503419","ensembl_id":"ENSG00000108381"}}},"hgnc_date_symbol_changed":"1993-12-09"},"entity_type":"gene","entity_name":"ASPA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Canavan disease MIM#271900"],"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:746","gene_name":"argininosuccinate lyase","omim_gene":["608310"],"alias_name":null,"gene_symbol":"ASL","hgnc_symbol":"ASL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:65540785-65558545","ensembl_id":"ENSG00000126522"}},"GRch38":{"90":{"location":"7:66075798-66093558","ensembl_id":"ENSG00000126522"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ASL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Argininosuccinic aciduria, MIM#207900"],"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":["ISSX","CT121","EIEE1"],"biotype":"protein_coding","hgnc_id":"HGNC:18060","gene_name":"aristaless related homeobox","omim_gene":["300382"],"alias_name":["cancer/testis antigen 121"],"gene_symbol":"ARX","hgnc_symbol":"ARX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:25021811-25034065","ensembl_id":"ENSG00000004848"}},"GRch38":{"90":{"location":"X:25003694-25016420","ensembl_id":"ENSG00000004848"}}},"hgnc_date_symbol_changed":"2002-02-11"},"entity_type":"gene","entity_name":"ARX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Lissencephaly, X-linked 2, MIM# 300215"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:714","gene_name":"arylsulfatase B","omim_gene":["611542"],"alias_name":null,"gene_symbol":"ARSB","hgnc_symbol":"ARSB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:78073032-78281910","ensembl_id":"ENSG00000113273"}},"GRch38":{"90":{"location":"5:78777209-78986087","ensembl_id":"ENSG00000113273"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ARSB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31142378"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Mucopolysaccharidosis VI (MPS6, MIM# 253200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:713","gene_name":"arylsulfatase A","omim_gene":["607574"],"alias_name":["metachromatic leucodystrophy"],"gene_symbol":"ARSA","hgnc_symbol":"ARSA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51061182-51066607","ensembl_id":"ENSG00000100299"}},"GRch38":{"90":{"location":"22:50622754-50628173","ensembl_id":"ENSG00000100299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ARSA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25987178","23348427","33195324"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Metachromatic leukodystrophy, MIM# 250100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARC41","p40-ARC","p41-ARC"],"biotype":"protein_coding","hgnc_id":"HGNC:704","gene_name":"actin related protein 2/3 complex subunit 1B","omim_gene":["604223"],"alias_name":["ARP2/3 protein complex subunit p41","actin related protein 2/3 complex, subunit 1A (41 kD)"],"gene_symbol":"ARPC1B","hgnc_symbol":"ARPC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:98971872-98992424","ensembl_id":"ENSG00000130429"}},"GRch38":{"90":{"location":"7:99374249-99394801","ensembl_id":"ENSG00000130429"}}},"hgnc_date_symbol_changed":"1999-08-06"},"entity_type":"gene","entity_name":"ARPC1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718"],"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":["FLJ10817","FLJ10376","DKFZP434P1735","CILD23"],"biotype":"protein_coding","hgnc_id":"HGNC:25583","gene_name":"armadillo repeat containing 4","omim_gene":["615408"],"alias_name":null,"gene_symbol":"ARMC4","hgnc_symbol":"ARMC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:28064115-28287977","ensembl_id":"ENSG00000169126"}},"GRch38":{"90":{"location":"10:27812164-27999048","ensembl_id":"ENSG00000169126"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"ARMC4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ciliary dyskinesia, primary, 23, MIM# 615451"],"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":["KIAA1235","ELD/OSA1","p250R","BAF250b","DAN15","6A3-5"],"biotype":"protein_coding","hgnc_id":"HGNC:18040","gene_name":"AT-rich interaction domain 1B","omim_gene":["614556"],"alias_name":null,"gene_symbol":"ARID1B","hgnc_symbol":"ARID1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:157099063-157531913","ensembl_id":"ENSG00000049618"}},"GRch38":{"90":{"location":"6:156777374-157210779","ensembl_id":"ENSG00000049618"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"ARID1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Coffin-Siris syndrome 1 MIM#135900"],"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:663","gene_name":"arginase 1","omim_gene":["608313"],"alias_name":null,"gene_symbol":"ARG1","hgnc_symbol":"ARG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:131894284-131905472","ensembl_id":"ENSG00000118520"}},"GRch38":{"90":{"location":"6:131573144-131584332","ensembl_id":"ENSG00000118520"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ARG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Arginase deficiency, MIM#207800"],"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":["BIG2"],"biotype":"protein_coding","hgnc_id":"HGNC:15853","gene_name":"ADP ribosylation factor guanine nucleotide exchange factor 2","omim_gene":["605371"],"alias_name":["Brefeldin A-inhibited guanine nucleotide-exchange protein 2"],"gene_symbol":"ARFGEF2","hgnc_symbol":"ARFGEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:47538427-47653230","ensembl_id":"ENSG00000124198"}},"GRch38":{"90":{"location":"20:48921890-49036693","ensembl_id":"ENSG00000124198"}}},"hgnc_date_symbol_changed":"2001-06-21"},"entity_type":"gene","entity_name":"ARFGEF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Periventricular heterotopia with microcephaly (MIM#608097)"],"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":["AIS","NR3C4","SMAX1","HUMARA"],"biotype":"protein_coding","hgnc_id":"HGNC:644","gene_name":"androgen receptor","omim_gene":["313700"],"alias_name":["testicular feminization","Kennedy disease"],"gene_symbol":"AR","hgnc_symbol":"AR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:66764465-66950461","ensembl_id":"ENSG00000169083"}},"GRch38":{"90":{"location":"X:67544032-67730619","ensembl_id":"ENSG00000169083"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Hypospadias 1, X-linked MIM#30063","Androgen insensitivity MIM#300068","Androgen insensitivity, partial, with or without breast cancer MIM#312300"],"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":["FLJ20157","AOA","AOA1","EAOH","EOAHA"],"biotype":"protein_coding","hgnc_id":"HGNC:15984","gene_name":"aprataxin","omim_gene":["606350"],"alias_name":null,"gene_symbol":"APTX","hgnc_symbol":"APTX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32972604-33025166","ensembl_id":"ENSG00000137074"}},"GRch38":{"90":{"location":"9:32972606-33025168","ensembl_id":"ENSG00000137074"}}},"hgnc_date_symbol_changed":"2001-07-16"},"entity_type":"gene","entity_name":"APTX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30986824","26256098","11586299"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920"],"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:626","gene_name":"adenine phosphoribosyltransferase","omim_gene":["102600"],"alias_name":null,"gene_symbol":"APRT","hgnc_symbol":"APRT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88875747-88878352","ensembl_id":"ENSG00000198931"}},"GRch38":{"90":{"location":"16:88809339-88811944","ensembl_id":"ENSG00000198931"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"APRT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Adenine phosphoribosyltransferase deficiency, MIM#\t614723"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:634","gene_name":"aquaporin 2","omim_gene":["107777"],"alias_name":null,"gene_symbol":"AQP2","hgnc_symbol":"AQP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:50344524-50352664","ensembl_id":"ENSG00000167580"}},"GRch38":{"90":{"location":"12:49950741-49958881","ensembl_id":"ENSG00000167580"}}},"hgnc_date_symbol_changed":"1993-07-09"},"entity_type":"gene","entity_name":"AQP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7537761","11536078"],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Diabetes insipidus, nephrogenic, 2, MIM#125800"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable","clinical trial","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:603","gene_name":"apolipoprotein B","omim_gene":["107730"],"alias_name":null,"gene_symbol":"APOB","hgnc_symbol":"APOB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:21224301-21266945","ensembl_id":"ENSG00000084674"}},"GRch38":{"90":{"location":"2:21001429-21044073","ensembl_id":"ENSG00000084674"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"APOB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Hypercholesterolaemia, familial, 2, MIM# 144010"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","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":["DP2","DP3","DP2.5","PPP1R46"],"biotype":"protein_coding","hgnc_id":"HGNC:583","gene_name":"APC, WNT signaling pathway regulator","omim_gene":["611731"],"alias_name":["protein phosphatase 1, regulatory subunit 46"],"gene_symbol":"APC","hgnc_symbol":"APC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:112043195-112181936","ensembl_id":"ENSG00000134982"}},"GRch38":{"90":{"location":"5:112707498-112846239","ensembl_id":"ENSG00000134982"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"APC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Adenomatous polyposis coli, MIM# 175100"],"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":["MU-ARP2","MU-4","SPG50"],"biotype":"protein_coding","hgnc_id":"HGNC:574","gene_name":"adaptor related protein complex 4 mu 1 subunit","omim_gene":["602296"],"alias_name":["mu-adaptin-related protein-2","mu subunit of AP-4","AP-4 adapter complex mu subunit","adaptor-related protein complex AP-4 mu4 subunit"],"gene_symbol":"AP4M1","hgnc_symbol":"AP4M1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:99699172-99707968","ensembl_id":"ENSG00000221838"}},"GRch38":{"90":{"location":"7:100101549-100110345","ensembl_id":"ENSG00000221838"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4M1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31915823","32979048","19559397","25496299","21937992","28464862","29096665"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Spastic paraplegia 50, autosomal recessive, MIM#\t612936"],"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":["AP-4-EPSILON","SPG51"],"biotype":"protein_coding","hgnc_id":"HGNC:573","gene_name":"adaptor related protein complex 4 epsilon 1 subunit","omim_gene":["607244"],"alias_name":null,"gene_symbol":"AP4E1","hgnc_symbol":"AP4E1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51200869-51298097","ensembl_id":"ENSG00000081014"}},"GRch38":{"90":{"location":"15:50908672-51005900","ensembl_id":"ENSG00000081014"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4E1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20972249","32979048","23472171","21620353","21937992"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Spastic paraplegia 51, autosomal recessive, MIM# 613744"],"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":["BETA-4"],"biotype":"protein_coding","hgnc_id":"HGNC:572","gene_name":"adaptor related protein complex 4 beta 1 subunit","omim_gene":["607245"],"alias_name":["beta 4 subunit of AP-4","AP-4 complex subunit beta-1"],"gene_symbol":"AP4B1","hgnc_symbol":"AP4B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:114437370-114447823","ensembl_id":"ENSG00000134262"}},"GRch38":{"90":{"location":"1:113894748-113905201","ensembl_id":"ENSG00000134262"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24700674","32979048","32166732","32171285","22290197","21620353","31525725","24781758"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Spastic paraplegia 47, autosomal recessive, MIM# 614066"],"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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","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":["CMG2","CMG-2","FLJ31074"],"biotype":"protein_coding","hgnc_id":"HGNC:21732","gene_name":"anthrax toxin receptor 2","omim_gene":["608041"],"alias_name":["capillary morphogenesis protein 2"],"gene_symbol":"ANTXR2","hgnc_symbol":"ANTXR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:80822303-81046608","ensembl_id":"ENSG00000163297"}},"GRch38":{"90":{"location":"4:79901149-80125454","ensembl_id":"ENSG00000163297"}}},"hgnc_date_symbol_changed":"2003-09-25"},"entity_type":"gene","entity_name":"ANTXR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Hyaline fibromatosis syndrome, MIM# 228600","MONDO:0009229"],"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":["FLJ10375","MGC47890","SCAR10"],"biotype":"protein_coding","hgnc_id":"HGNC:25519","gene_name":"anoctamin 10","omim_gene":["613726"],"alias_name":null,"gene_symbol":"ANO10","hgnc_symbol":"ANO10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:43396351-43733086","ensembl_id":"ENSG00000160746"}},"GRch38":{"90":{"location":"3:43354859-43691594","ensembl_id":"ENSG00000160746"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 10, MIM#613728"],"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":["KIAA1074"],"biotype":"protein_coding","hgnc_id":"HGNC:29186","gene_name":"ankyrin repeat domain 26","omim_gene":["610855"],"alias_name":null,"gene_symbol":"ANKRD26","hgnc_symbol":"ANKRD26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27280843-27389421","ensembl_id":"ENSG00000107890"}},"GRch38":{"90":{"location":"10:26991914-27100498","ensembl_id":"ENSG00000107890"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"ANKRD26","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Thrombocytopaenia 2, MIM# 188000"],"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":["HANK","ANK","CPPDD"],"biotype":"protein_coding","hgnc_id":"HGNC:15492","gene_name":"ANKH inorganic pyrophosphate transport regulator","omim_gene":["605145"],"alias_name":null,"gene_symbol":"ANKH","hgnc_symbol":"ANKH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14704910-14871887","ensembl_id":"ENSG00000154122"}},"GRch38":{"90":{"location":"5:14704804-14871778","ensembl_id":"ENSG00000154122"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"ANKH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Craniometaphyseal dysplasia MIM#123000"],"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:493","gene_name":"ankyrin 2","omim_gene":["106410"],"alias_name":null,"gene_symbol":"ANK2","hgnc_symbol":"ANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:113739265-114304896","ensembl_id":"ENSG00000145362"}},"GRch38":{"90":{"location":"4:112818109-113383740","ensembl_id":"ENSG00000145362"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"ANK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category B gene"],"phenotypes":["Complex neurodevelopmental disorder, MONDO:0100038"],"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":["SPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:492","gene_name":"ankyrin 1","omim_gene":["612641"],"alias_name":null,"gene_symbol":"ANK1","hgnc_symbol":"ANK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:41510739-41754280","ensembl_id":"ENSG00000029534"}},"GRch38":{"90":{"location":"8:41653220-41896762","ensembl_id":"ENSG00000029534"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"ANK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spherocytosis, type 1 MIM#182900"],"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":["GCST","NKH"],"biotype":"protein_coding","hgnc_id":"HGNC:473","gene_name":"aminomethyltransferase","omim_gene":["238310"],"alias_name":["glycine cleavage system protein T"],"gene_symbol":"AMT","hgnc_symbol":"AMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49454211-49460186","ensembl_id":"ENSG00000145020"}},"GRch38":{"90":{"location":"3:49416775-49422753","ensembl_id":"ENSG00000145020"}}},"hgnc_date_symbol_changed":"1992-04-08"},"entity_type":"gene","entity_name":"AMT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["35683414"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Glycine encephalopathy MIM#605899"],"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":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Megaloblastic anemia-1, Norwegian type, MIM#618882"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:461","gene_name":"amelogenin, X-linked","omim_gene":["300391"],"alias_name":["amelogenesis imperfecta 1"],"gene_symbol":"AMELX","hgnc_symbol":"AMELX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:11311533-11318881","ensembl_id":"ENSG00000125363"}},"GRch38":{"90":{"location":"X:11293413-11300761","ensembl_id":"ENSG00000125363"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"AMELX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Amelogenesis imperfecta, type 1E, MIM# 301200"],"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":["FPP","PFM","KIAA1788"],"biotype":"protein_coding","hgnc_id":"HGNC:450","gene_name":"ALX homeobox 4","omim_gene":["605420"],"alias_name":null,"gene_symbol":"ALX4","hgnc_symbol":"ALX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:44281994-44331716","ensembl_id":"ENSG00000052850"}},"GRch38":{"90":{"location":"11:44260444-44310166","ensembl_id":"ENSG00000052850"}}},"hgnc_date_symbol_changed":"2000-06-15"},"entity_type":"gene","entity_name":"ALX4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Frontonasal dysplasia 2 MIM# 613451","Parietal foramina 2 MIM# 609597","{Craniosynostosis 5, susceptibility to} MIM#615529"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:443","gene_name":"ALS2, alsin Rho guanine nucleotide exchange factor","omim_gene":["606352"],"alias_name":["alsin"],"gene_symbol":"ALS2","hgnc_symbol":"ALS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202565277-202645912","ensembl_id":"ENSG00000003393"}},"GRch38":{"90":{"location":"2:201700554-201781189","ensembl_id":"ENSG00000003393"}}},"hgnc_date_symbol_changed":"1992-11-19"},"entity_type":"gene","entity_name":"ALS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Infantile onset ascending spastic paralysis (MIM#607225)","Juvenile amyotrophic lateral sclerosis 2 (MIM#205100)","Juvenile primary lateral sclerosis (MIM#606353)"],"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":["TNSALP"],"biotype":"protein_coding","hgnc_id":"HGNC:438","gene_name":"alkaline phosphatase, liver/bone/kidney","omim_gene":["171760"],"alias_name":null,"gene_symbol":"ALPL","hgnc_symbol":"ALPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:21835858-21904905","ensembl_id":"ENSG00000162551"}},"GRch38":{"90":{"location":"1:21509372-21578412","ensembl_id":"ENSG00000162551"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31413732","30811537"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Hypophosphatasia, childhood OMIM#241510","Hypophosphatasia, infantile OMIM#241500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","skeletal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["eLOX3","E-LOX"],"biotype":"protein_coding","hgnc_id":"HGNC:13743","gene_name":"arachidonate lipoxygenase 3","omim_gene":["607206"],"alias_name":null,"gene_symbol":"ALOXE3","hgnc_symbol":"ALOXE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7999218-8022365","ensembl_id":"ENSG00000179148"}},"GRch38":{"90":{"location":"17:8095900-8119047","ensembl_id":"ENSG00000179148"}}},"hgnc_date_symbol_changed":"2000-11-29"},"entity_type":"gene","entity_name":"ALOXE3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 3, MIM#606545"],"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":["12R-LOX"],"biotype":"protein_coding","hgnc_id":"HGNC:430","gene_name":"arachidonate 12-lipoxygenase, 12R type","omim_gene":["603741"],"alias_name":null,"gene_symbol":"ALOX12B","hgnc_symbol":"ALOX12B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7975954-7991021","ensembl_id":"ENSG00000179477"}},"GRch38":{"90":{"location":"17:8072636-8087703","ensembl_id":"ENSG00000179477"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"ALOX12B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 2, MIM# 242100"],"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":["KIAA0328"],"biotype":"protein_coding","hgnc_id":"HGNC:428","gene_name":"ALMS1, centrosome and basal body associated protein","omim_gene":["606844"],"alias_name":null,"gene_symbol":"ALMS1","hgnc_symbol":"ALMS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73612886-73837920","ensembl_id":"ENSG00000116127"}},"GRch38":{"90":{"location":"2:73385758-73610793","ensembl_id":"ENSG00000116127"}}},"hgnc_date_symbol_changed":"1998-10-12"},"entity_type":"gene","entity_name":"ALMS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Alstrom syndrome, MIM# 203800"],"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:15672","gene_name":"ALG9, alpha-1,2-mannosyltransferase","omim_gene":["606941"],"alias_name":["dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase","dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase","dol-P-Man dependent alpha-1,2-mannosyltransferase"],"gene_symbol":"ALG9","hgnc_symbol":"ALG9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111652919-111742305","ensembl_id":"ENSG00000086848"}},"GRch38":{"90":{"location":"11:111782195-111871581","ensembl_id":"ENSG00000086848"}}},"hgnc_date_symbol_changed":"2004-08-26"},"entity_type":"gene","entity_name":"ALG9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26453364","25966638","28932688"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210","Congenital disorder of glycosylation, type Il, MIM#608776"],"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":["MGC2840"],"biotype":"protein_coding","hgnc_id":"HGNC:23161","gene_name":"ALG8, alpha-1,3-glucosyltransferase","omim_gene":["608103"],"alias_name":["dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"],"gene_symbol":"ALG8","hgnc_symbol":"ALG8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:77811982-77850706","ensembl_id":"ENSG00000159063"}},"GRch38":{"90":{"location":"11:78100936-78139660","ensembl_id":"ENSG00000159063"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Congenital disorder of glycosylation, type Ih, MIM# 608104"],"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:23157","gene_name":"ALG6, alpha-1,3-glucosyltransferase","omim_gene":["604566"],"alias_name":["dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"],"gene_symbol":"ALG6","hgnc_symbol":"ALG6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:63833261-63904233","ensembl_id":"ENSG00000088035"}},"GRch38":{"90":{"location":"1:63367590-63438562","ensembl_id":"ENSG00000088035"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Congenital disorder of glycosylation, type Ic (MIM#603147)"],"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":["NOT56L","Not56","CDGS4","D16Ertd36e"],"biotype":"protein_coding","hgnc_id":"HGNC:23056","gene_name":"ALG3, alpha-1,3- mannosyltransferase","omim_gene":["608750"],"alias_name":["carbohydrate deficient glycoprotein syndrome type IV","dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase","dol-P-Man dependent alpha-1,3- mannosyltransferase"],"gene_symbol":"ALG3","hgnc_symbol":"ALG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183960089-183967336","ensembl_id":"ENSG00000214160"}},"GRch38":{"90":{"location":"3:184242301-184249548","ensembl_id":"ENSG00000214160"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Congenital disorder of glycosylation, type Id, MIM# 601110"],"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":["MGC19780"],"biotype":"protein_coding","hgnc_id":"HGNC:28287","gene_name":"ALG14, UDP-N-acetylglucosaminyltransferase subunit","omim_gene":["612866"],"alias_name":null,"gene_symbol":"ALG14","hgnc_symbol":"ALG14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:95439963-95538501","ensembl_id":"ENSG00000172339"}},"GRch38":{"90":{"location":"1:94974407-95072945","ensembl_id":"ENSG00000172339"}}},"hgnc_date_symbol_changed":"2005-08-09"},"entity_type":"gene","entity_name":"ALG14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Myasthenic syndrome, congenital, 15, without tubular aggregates 616227","Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031","Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036","Disorder of N-glycosylation"],"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":["ECM39","CDG1G"],"biotype":"protein_coding","hgnc_id":"HGNC:19358","gene_name":"ALG12, alpha-1,6-mannosyltransferase","omim_gene":["607144"],"alias_name":["dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase","dol-P-Man dependent alpha-1,6-mannosyltransferase"],"gene_symbol":"ALG12","hgnc_symbol":"ALG12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50293877-50312106","ensembl_id":"ENSG00000182858"}},"GRch38":{"90":{"location":"22:49900229-49918458","ensembl_id":"ENSG00000182858"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Congenital disorder of glycosylation, type Ig, MIM# 607143"],"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}]}