{"count":35518,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=323","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=321","results":[{"gene_data":{"alias":["TSLRP","LRTP","CILD19"],"biotype":"protein_coding","hgnc_id":"HGNC:16725","gene_name":"leucine rich repeat containing 6","omim_gene":["614930"],"alias_name":["leucine rich testes protein"],"gene_symbol":"LRRC6","hgnc_symbol":"LRRC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:133584320-133687838","ensembl_id":"ENSG00000129295"}},"GRch38":{"90":{"location":"8:132571953-132675617","ensembl_id":"ENSG00000129295"}}},"hgnc_date_symbol_changed":"2004-07-09"},"entity_type":"gene","entity_name":"LRRC6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ciliary dyskinesia, primary, 19, MIM# 614935"],"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":["FLJ31641","CMT2P"],"biotype":"protein_coding","hgnc_id":"HGNC:25135","gene_name":"leucine rich repeat and sterile alpha motif containing 1","omim_gene":["610933"],"alias_name":null,"gene_symbol":"LRSAM1","hgnc_symbol":"LRSAM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130213765-130265780","ensembl_id":"ENSG00000148356"}},"GRch38":{"90":{"location":"9:127451486-127503501","ensembl_id":"ENSG00000148356"}}},"hgnc_date_symbol_changed":"2003-12-19"},"entity_type":"gene","entity_name":"LRSAM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436"],"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":["COMT2","CFAP111"],"biotype":"protein_coding","hgnc_id":"HGNC:25033","gene_name":"leucine rich transmembrane and O-methyltransferase domain containing","omim_gene":["612414"],"alias_name":null,"gene_symbol":"LRTOMT","hgnc_symbol":"LRTOMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71791382-71821828","ensembl_id":"ENSG00000184154"}},"GRch38":{"90":{"location":"11:72080331-72110782","ensembl_id":"ENSG00000184154"}}},"hgnc_date_symbol_changed":"2008-11-27"},"entity_type":"gene","entity_name":"LRTOMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 63, MIM# 611451"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LTBP-4","LTBP-4L","FLJ46318","FLJ90018"],"biotype":"protein_coding","hgnc_id":"HGNC:6717","gene_name":"latent transforming growth factor beta binding protein 4","omim_gene":["604710"],"alias_name":null,"gene_symbol":"LTBP4","hgnc_symbol":"LTBP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41098789-41135725","ensembl_id":"ENSG00000090006"}},"GRch38":{"90":{"location":"19:40592883-40629818","ensembl_id":"ENSG00000090006"}}},"hgnc_date_symbol_changed":"1998-11-18"},"entity_type":"gene","entity_name":"LTBP4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cutis laxa, autosomal recessive, type IC (MIM# 613177)"],"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":["CHS"],"biotype":"protein_coding","hgnc_id":"HGNC:1968","gene_name":"lysosomal trafficking regulator","omim_gene":["606897"],"alias_name":null,"gene_symbol":"LYST","hgnc_symbol":"LYST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235824341-236046940","ensembl_id":"ENSG00000143669"}},"GRch38":{"90":{"location":"1:235661041-235883640","ensembl_id":"ENSG00000143669"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"LYST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Chediak-Higashi syndrome, MIM#214500"],"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":["MAD2B","REV7","POLZ2","FANCV"],"biotype":"protein_coding","hgnc_id":"HGNC:6764","gene_name":"mitotic arrest deficient 2 like 2","omim_gene":["604094"],"alias_name":["mitotic arrest deficient homolog-like 2","polymerase (DNA-directed), zeta 2, accessory subunit"],"gene_symbol":"MAD2L2","hgnc_symbol":"MAD2L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11734537-11751707","ensembl_id":"ENSG00000116670"}},"GRch38":{"90":{"location":"1:11674480-11691650","ensembl_id":"ENSG00000116670"}}},"hgnc_date_symbol_changed":"1999-06-22"},"entity_type":"gene","entity_name":"MAD2L2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27500492"],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Fanconi anemia, complementation group V, MIM# \t617243"],"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:6408","gene_name":"MAF bZIP transcription factor B","omim_gene":["608968"],"alias_name":null,"gene_symbol":"MAFB","hgnc_symbol":"MAFB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:39314488-39317880","ensembl_id":"ENSG00000204103"}},"GRch38":{"90":{"location":"20:40685848-40689240","ensembl_id":"ENSG00000204103"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"MAFB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33975323"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Multicentric carpotarsal osteolysis syndrome (MIM#166300)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["AIP1","ARIP1","KIAA0705","ACVRIP1","MAGI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:18957","gene_name":"membrane associated guanylate kinase, WW and PDZ domain containing 2","omim_gene":["606382"],"alias_name":null,"gene_symbol":"MAGI2","hgnc_symbol":"MAGI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:77646393-79082890","ensembl_id":"ENSG00000187391"}},"GRch38":{"90":{"location":"7:78017057-79453574","ensembl_id":"ENSG00000187391"}}},"hgnc_date_symbol_changed":"2005-05-10"},"entity_type":"gene","entity_name":"MAGI2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Nephrotic syndrome, type 15, MIM# 617609"],"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":["LAMAN"],"biotype":"protein_coding","hgnc_id":"HGNC:6826","gene_name":"mannosidase alpha class 2B member 1","omim_gene":["609458"],"alias_name":null,"gene_symbol":"MAN2B1","hgnc_symbol":"MAN2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12757325-12777556","ensembl_id":"ENSG00000104774"}},"GRch38":{"90":{"location":"19:12646511-12666742","ensembl_id":"ENSG00000104774"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MAN2B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Mannosidosis, alpha-, types I and II, MIM# 248500"],"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":["MEK1","MAPKK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6840","gene_name":"mitogen-activated protein kinase kinase 1","omim_gene":["176872"],"alias_name":null,"gene_symbol":"MAP2K1","hgnc_symbol":"MAP2K1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:66679155-66784650","ensembl_id":"ENSG00000169032"}},"GRch38":{"90":{"location":"15:66386817-66492312","ensembl_id":"ENSG00000169032"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"MAP2K1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cardiofaciocutaneous syndrome 3, MIM# 615279"],"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":["MEK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6842","gene_name":"mitogen-activated protein kinase kinase 2","omim_gene":["601263"],"alias_name":null,"gene_symbol":"MAP2K2","hgnc_symbol":"MAP2K2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4090319-4124126","ensembl_id":"ENSG00000126934"}},"GRch38":{"90":{"location":"19:4090321-4124129","ensembl_id":"ENSG00000126934"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"MAP2K2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cardiofaciocutaneous syndrome 4, MIM# 615280"],"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":["FLJ30532","TRIC"],"biotype":"protein_coding","hgnc_id":"HGNC:26401","gene_name":"MARVEL domain containing 2","omim_gene":["610572"],"alias_name":["tricellulin"],"gene_symbol":"MARVELD2","hgnc_symbol":"MARVELD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:68710939-68740157","ensembl_id":"ENSG00000152939"}},"GRch38":{"90":{"location":"5:69415112-69444330","ensembl_id":"ENSG00000152939"}}},"hgnc_date_symbol_changed":"2004-07-14"},"entity_type":"gene","entity_name":"MARVELD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 49, MIM# 610153"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S2P"],"biotype":"protein_coding","hgnc_id":"HGNC:15455","gene_name":"membrane bound transcription factor peptidase, site 2","omim_gene":["300294"],"alias_name":["site-2 protease"],"gene_symbol":"MBTPS2","hgnc_symbol":"MBTPS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:21857754-21903542","ensembl_id":"ENSG00000012174"}},"GRch38":{"90":{"location":"X:21839636-21885424","ensembl_id":"ENSG00000012174"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"MBTPS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["IFAP syndrome with or without BRESHECK syndrome MIM#308205"],"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":["ACTHR"],"biotype":"protein_coding","hgnc_id":"HGNC:6930","gene_name":"melanocortin 2 receptor","omim_gene":["607397"],"alias_name":["adrenocorticotropic hormone receptor"],"gene_symbol":"MC2R","hgnc_symbol":"MC2R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:13882043-13915706","ensembl_id":"ENSG00000185231"}},"GRch38":{"90":{"location":"18:13882044-13915707","ensembl_id":"ENSG00000185231"}}},"hgnc_date_symbol_changed":"1993-07-20"},"entity_type":"gene","entity_name":"MC2R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM#\t202200"],"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":["MCCA"],"biotype":"protein_coding","hgnc_id":"HGNC:6936","gene_name":"methylcrotonoyl-CoA carboxylase 1","omim_gene":["609010"],"alias_name":["methylcrotonoyl-CoA carboxylase alpha"],"gene_symbol":"MCCC1","hgnc_symbol":"MCCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:182733006-182833863","ensembl_id":"ENSG00000078070"}},"GRch38":{"90":{"location":"3:183015218-183116075","ensembl_id":"ENSG00000078070"}}},"hgnc_date_symbol_changed":"1992-12-07"},"entity_type":"gene","entity_name":"MCCC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22642865","31730530"],"evidence":["Expert Review Red","BabySeq Category B gene","BeginNGS"],"phenotypes":["3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200"],"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":["MCCB"],"biotype":"protein_coding","hgnc_id":"HGNC:6937","gene_name":"methylcrotonoyl-CoA carboxylase 2","omim_gene":["609014"],"alias_name":["methylcrotonoyl-CoA carboxylase beta"],"gene_symbol":"MCCC2","hgnc_symbol":"MCCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70883115-70954531","ensembl_id":"ENSG00000131844"}},"GRch38":{"90":{"location":"5:71587288-71658704","ensembl_id":"ENSG00000131844"}}},"hgnc_date_symbol_changed":"1992-12-07"},"entity_type":"gene","entity_name":"MCCC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22642865"],"evidence":["Expert Review Red","BabySeq Category B gene","BeginNGS"],"phenotypes":["3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210"],"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":["F5F8D","LMAN1IP","SDNSF"],"biotype":"protein_coding","hgnc_id":"HGNC:18451","gene_name":"multiple coagulation factor deficiency 2","omim_gene":["607788"],"alias_name":null,"gene_symbol":"MCFD2","hgnc_symbol":"MCFD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47129009-47168994","ensembl_id":"ENSG00000180398"}},"GRch38":{"90":{"location":"2:46901870-46941855","ensembl_id":"ENSG00000180398"}}},"hgnc_date_symbol_changed":"2003-06-24"},"entity_type":"gene","entity_name":"MCFD2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Factor V and factor VIII, combined deficiency of, MIM# 613625"],"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":["TRPML1","ML4","MLIV","MST080","MSTP080","TRPM-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:13356","gene_name":"mucolipin 1","omim_gene":["605248"],"alias_name":null,"gene_symbol":"MCOLN1","hgnc_symbol":"MCOLN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7587512-7598895","ensembl_id":"ENSG00000090674"}},"GRch38":{"90":{"location":"19:7522626-7534009","ensembl_id":"ENSG00000090674"}}},"hgnc_date_symbol_changed":"2000-09-19"},"entity_type":"gene","entity_name":"MCOLN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Mucolipidosis IV, MIM# 252650"],"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":["FLJ12847","BRIT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6954","gene_name":"microcephalin 1","omim_gene":["607117"],"alias_name":["BRCT-repeat inhibitor of TERT expression 1"],"gene_symbol":"MCPH1","hgnc_symbol":"MCPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:6264113-6501144","ensembl_id":"ENSG00000147316"}},"GRch38":{"90":{"location":"8:6406592-6648504","ensembl_id":"ENSG00000147316"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"MCPH1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Microcephaly 1, primary, autosomal recessive, MIM# 251200"],"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:6990","gene_name":"methyl-CpG binding protein 2","omim_gene":["300005"],"alias_name":null,"gene_symbol":"MECP2","hgnc_symbol":"MECP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153287024-153363212","ensembl_id":"ENSG00000169057"}},"GRch38":{"90":{"location":"X:154021573-154137103","ensembl_id":"ENSG00000169057"}}},"hgnc_date_symbol_changed":"1996-09-03"},"entity_type":"gene","entity_name":"MECP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAGH45","HOPA","OPA1","TRAP230","KIAA0192","OKS"],"biotype":"protein_coding","hgnc_id":"HGNC:11957","gene_name":"mediator complex subunit 12","omim_gene":["300188"],"alias_name":null,"gene_symbol":"MED12","hgnc_symbol":"MED12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70338406-70362303","ensembl_id":"ENSG00000184634"}},"GRch38":{"90":{"location":"X:71118556-71142454","ensembl_id":"ENSG00000184634"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"MED12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ohdo syndrome, X-linked MIM#300895","Lujan-Fryns syndrome MIM#309520","Opitz-Kaveggia syndrome MIM#305450","Hardikar syndrome, MIM# 301068"],"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":["ARC92","ACID1","TCBAP0758","DKFZp434K0512"],"biotype":"protein_coding","hgnc_id":"HGNC:28845","gene_name":"mediator complex subunit 25","omim_gene":["610197"],"alias_name":null,"gene_symbol":"MED25","hgnc_symbol":"MED25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50321539-50342073","ensembl_id":"ENSG00000104973"}},"GRch38":{"90":{"location":"19:49818279-49838816","ensembl_id":"ENSG00000104973"}}},"hgnc_date_symbol_changed":"2004-11-09"},"entity_type":"gene","entity_name":"MED25","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25792360","32816121"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643","Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449"],"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":["FMF","TRIM20"],"biotype":"protein_coding","hgnc_id":"HGNC:6998","gene_name":"MEFV, pyrin innate immunity regulator","omim_gene":["608107"],"alias_name":["marenostrin"],"gene_symbol":"MEFV","hgnc_symbol":"MEFV","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3292028-3306627","ensembl_id":"ENSG00000103313"}},"GRch38":{"90":{"location":"16:3242028-3256627","ensembl_id":"ENSG00000103313"}}},"hgnc_date_symbol_changed":"1989-10-30"},"entity_type":"gene","entity_name":"MEFV","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Familial Mediterranean fever MIM# 249100"],"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":["KIAA1780"],"biotype":"protein_coding","hgnc_id":"HGNC:29634","gene_name":"multiple EGF like domains 10","omim_gene":["612453"],"alias_name":null,"gene_symbol":"MEGF10","hgnc_symbol":"MEGF10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:126626523-126801429","ensembl_id":"ENSG00000145794"}},"GRch38":{"90":{"location":"5:127290831-127465737","ensembl_id":"ENSG00000145794"}}},"hgnc_date_symbol_changed":"2006-03-31"},"entity_type":"gene","entity_name":"MEGF10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399"],"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:7010","gene_name":"menin 1","omim_gene":["613733"],"alias_name":["menin"],"gene_symbol":"MEN1","hgnc_symbol":"MEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64570982-64578766","ensembl_id":"ENSG00000133895"}},"GRch38":{"90":{"location":"11:64803510-64811294","ensembl_id":"ENSG00000133895"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MEN1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Multiple endocrine neoplasia 1, MIM#131100"],"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":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260","Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087","Hereditary motor and sensory neuropathy VIA, OMIM #601152"],"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":["MGC33302"],"biotype":"protein_coding","hgnc_id":"HGNC:28486","gene_name":"major facilitator superfamily domain containing 8","omim_gene":["611124"],"alias_name":null,"gene_symbol":"MFSD8","hgnc_symbol":"MFSD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:128838960-128887150","ensembl_id":"ENSG00000164073"}},"GRch38":{"90":{"location":"4:127917732-127966034","ensembl_id":"ENSG00000164073"}}},"hgnc_date_symbol_changed":"2007-02-19"},"entity_type":"gene","entity_name":"MFSD8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31597037"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 7, MIM# 610951"],"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":["GNT-II"],"biotype":"protein_coding","hgnc_id":"HGNC:7045","gene_name":"mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase","omim_gene":["602616"],"alias_name":null,"gene_symbol":"MGAT2","hgnc_symbol":"MGAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50087489-50090198","ensembl_id":"ENSG00000168282"}},"GRch38":{"90":{"location":"14:49620795-49623481","ensembl_id":"ENSG00000168282"}}},"hgnc_date_symbol_changed":"1993-02-16"},"entity_type":"gene","entity_name":"MGAT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22105986","31420886","11228641","33044030","8808595"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital disorder of glycosylation, type IIa, MIM# 212066","MGAT2-CDG, MONDO:0008908"],"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:7060","gene_name":"matrix Gla protein","omim_gene":["154870"],"alias_name":null,"gene_symbol":"MGP","hgnc_symbol":"MGP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:15034115-15038860","ensembl_id":"ENSG00000111341"}},"GRch38":{"90":{"location":"12:14881181-14885926","ensembl_id":"ENSG00000111341"}}},"hgnc_date_symbol_changed":"1991-08-01"},"entity_type":"gene","entity_name":"MGP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Keutel syndrome, MIM #245150"],"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":["MI","bHLHe32"],"biotype":"protein_coding","hgnc_id":"HGNC:7105","gene_name":"melanogenesis associated transcription factor","omim_gene":["156845"],"alias_name":["homolog of mouse microphthalmia"],"gene_symbol":"MITF","hgnc_symbol":"MITF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:69788586-70017488","ensembl_id":"ENSG00000187098"}},"GRch38":{"90":{"location":"3:69739435-69968337","ensembl_id":"ENSG00000187098"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"MITF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Waardenburg syndrome, type 2A, MIM# 193510","Deafness"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7108","gene_name":"McKusick-Kaufman syndrome","omim_gene":["604896"],"alias_name":null,"gene_symbol":"MKKS","hgnc_symbol":"MKKS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:10381657-10414870","ensembl_id":"ENSG00000125863"}},"GRch38":{"90":{"location":"20:10401009-10434222","ensembl_id":"ENSG00000125863"}}},"hgnc_date_symbol_changed":"1998-09-08"},"entity_type":"gene","entity_name":"MKKS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 6 (MIM#605231)","McKusick-Kaufman syndrome, MIM# 236700"],"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":["FLJ20345","POC12","BBS13"],"biotype":"protein_coding","hgnc_id":"HGNC:7121","gene_name":"Meckel syndrome, type 1","omim_gene":["609883"],"alias_name":["POC12 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"MKS1","hgnc_symbol":"MKS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56282803-56296966","ensembl_id":"ENSG00000011143"}},"GRch38":{"90":{"location":"17:58205437-58219605","ensembl_id":"ENSG00000011143"}}},"hgnc_date_symbol_changed":"1995-11-07"},"entity_type":"gene","entity_name":"MKS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Joubert syndrome 28, MIM# 617121 MONDO:0014928","Meckel syndrome 1, MIM# 249000 MONDO:0009571","Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441"],"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":["MLC","KIAA0027","LVM","VL"],"biotype":"protein_coding","hgnc_id":"HGNC:17082","gene_name":"megalencephalic leukoencephalopathy with subcortical cysts 1","omim_gene":["605908"],"alias_name":null,"gene_symbol":"MLC1","hgnc_symbol":"MLC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50497820-50524331","ensembl_id":"ENSG00000100427"}},"GRch38":{"90":{"location":"22:50059391-50085902","ensembl_id":"ENSG00000100427"}}},"hgnc_date_symbol_changed":"2002-04-30"},"entity_type":"gene","entity_name":"MLC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004"],"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":["MCD","hMCD"],"biotype":"protein_coding","hgnc_id":"HGNC:7150","gene_name":"malonyl-CoA decarboxylase","omim_gene":["606761"],"alias_name":null,"gene_symbol":"MLYCD","hgnc_symbol":"MLYCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:83932731-83949787","ensembl_id":"ENSG00000103150"}},"GRch38":{"90":{"location":"16:83899126-83927026","ensembl_id":"ENSG00000103150"}}},"hgnc_date_symbol_changed":"2000-02-11"},"entity_type":"gene","entity_name":"MLYCD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Malonyl-CoA decarboxylase deficiency, MIM# 248360"],"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":["cblA"],"biotype":"protein_coding","hgnc_id":"HGNC:18871","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblA type","omim_gene":["607481"],"alias_name":null,"gene_symbol":"MMAA","hgnc_symbol":"MMAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:146539415-146581187","ensembl_id":"ENSG00000151611"}},"GRch38":{"90":{"location":"4:145618263-145660035","ensembl_id":"ENSG00000151611"}}},"hgnc_date_symbol_changed":"2003-02-11"},"entity_type":"gene","entity_name":"MMAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria, vitamin B12-responsive, MIM#251100"],"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":["cblB","CFAP23"],"biotype":"protein_coding","hgnc_id":"HGNC:19331","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblB type","omim_gene":["607568"],"alias_name":["ATP:cob(I)alamin adenosyltransferase","cilia and flagella associated protein 23"],"gene_symbol":"MMAB","hgnc_symbol":"MMAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:109991542-110011679","ensembl_id":"ENSG00000139428"}},"GRch38":{"90":{"location":"12:109553737-109573874","ensembl_id":"ENSG00000139428"}}},"hgnc_date_symbol_changed":"2003-02-11"},"entity_type":"gene","entity_name":"MMAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110"],"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":["DKFZP564I122","cblC"],"biotype":"protein_coding","hgnc_id":"HGNC:24525","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria","omim_gene":["609831"],"alias_name":null,"gene_symbol":"MMACHC","hgnc_symbol":"MMACHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45965725-45976739","ensembl_id":"ENSG00000132763"}},"GRch38":{"90":{"location":"1:45500053-45513382","ensembl_id":"ENSG00000132763"}}},"hgnc_date_symbol_changed":"2006-01-12"},"entity_type":"gene","entity_name":"MMACHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400"],"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":["CL25022","cblD"],"biotype":"protein_coding","hgnc_id":"HGNC:25221","gene_name":"methylmalonic aciduria and homocystinuria, cblD type","omim_gene":["611935"],"alias_name":null,"gene_symbol":"MMADHC","hgnc_symbol":"MMADHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:150426148-150444330","ensembl_id":"ENSG00000168288"}},"GRch38":{"90":{"location":"2:149569634-149587816","ensembl_id":"ENSG00000168288"}}},"hgnc_date_symbol_changed":"2009-01-08"},"entity_type":"gene","entity_name":"MMADHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410"],"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:7526","gene_name":"methylmalonyl-CoA mutase","omim_gene":["609058"],"alias_name":null,"gene_symbol":"MUT","hgnc_symbol":"MUT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:49398073-49430904","ensembl_id":"ENSG00000146085"}},"GRch38":{"90":{"location":"6:49430360-49463191","ensembl_id":"ENSG00000146085"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MUT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria, mut(0) type, MIM#\t251000"],"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":["MOCOD"],"biotype":"protein_coding","hgnc_id":"HGNC:7190","gene_name":"molybdenum cofactor synthesis 1","omim_gene":["603707"],"alias_name":null,"gene_symbol":"MOCS1","hgnc_symbol":"MOCS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:39867354-39902290","ensembl_id":"ENSG00000124615"}},"GRch38":{"90":{"location":"6:39899578-39934551","ensembl_id":"ENSG00000124615"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"MOCS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20385644","26343839"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Molybdenum cofactor deficiency, MIM#252150"],"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":["MOCO1"],"biotype":"protein_coding","hgnc_id":"HGNC:7193","gene_name":"molybdenum cofactor synthesis 2","omim_gene":["603708"],"alias_name":null,"gene_symbol":"MOCS2","hgnc_symbol":"MOCS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:52391509-52405893","ensembl_id":"ENSG00000164172"}},"GRch38":{"90":{"location":"5:53095679-53110063","ensembl_id":"ENSG00000164172"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"MOCS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Molybdenum cofactor deficiency B, MIM#252160"],"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":["SL15","Lec35","PQLC5","CDGIf"],"biotype":"protein_coding","hgnc_id":"HGNC:7207","gene_name":"mannose-P-dolichol utilization defect 1","omim_gene":["604041"],"alias_name":null,"gene_symbol":"MPDU1","hgnc_symbol":"MPDU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7486847-7496107","ensembl_id":"ENSG00000129255"}},"GRch38":{"90":{"location":"17:7583529-7592789","ensembl_id":"ENSG00000129255"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"MPDU1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11733564","11733556","31741824","29721919"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital disorder of glycosylation, type If, MIM# 609180","MPDU1-CDG, MONDO:0012211"],"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:7216","gene_name":"mannose phosphate isomerase","omim_gene":["154550"],"alias_name":["mannose-6-phosphate isomerase"],"gene_symbol":"MPI","hgnc_symbol":"MPI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75182346-75191798","ensembl_id":"ENSG00000178802"}},"GRch38":{"90":{"location":"15:74890005-74902219","ensembl_id":"ENSG00000178802"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MPI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32266963","19101627"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Congenital disorder of glycosylation, type Ib, MIM# 602579"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD110","TPOR"],"biotype":"protein_coding","hgnc_id":"HGNC:7217","gene_name":"MPL proto-oncogene, thrombopoietin receptor","omim_gene":["159530"],"alias_name":null,"gene_symbol":"MPL","hgnc_symbol":"MPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43803478-43818443","ensembl_id":"ENSG00000117400"}},"GRch38":{"90":{"location":"1:43337849-43352772","ensembl_id":"ENSG00000117400"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"MPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32703794"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Thrombocytopenia, congenital amegakaryocytic, MIM# 604498"],"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":["SYM1"],"biotype":"protein_coding","hgnc_id":"HGNC:7224","gene_name":"MPV17, mitochondrial inner membrane protein","omim_gene":["137960"],"alias_name":["glomerulosclerosis"],"gene_symbol":"MPV17","hgnc_symbol":"MPV17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27532360-27548547","ensembl_id":"ENSG00000115204"}},"GRch38":{"90":{"location":"2:27309492-27325680","ensembl_id":"ENSG00000115204"}}},"hgnc_date_symbol_changed":"1994-03-21"},"entity_type":"gene","entity_name":"MPV17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810"],"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":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot Marie Tooth disease, dominant intermediate D, 60779","Neuropathy, congenital hypomyelinating, 605253","Charcot Marie Tooth disease, type 2J, 607736","Dejerine Sottas disease, 145900","Charcot Marie Tooth disease, type 1B, 118200","Charcot Marie Tooth disease, type 2I, 607677"],"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":["B27","FALP"],"biotype":"protein_coding","hgnc_id":"HGNC:1304","gene_name":"melanocortin 2 receptor accessory protein","omim_gene":["609196"],"alias_name":null,"gene_symbol":"MRAP","hgnc_symbol":"MRAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:33664124-33687095","ensembl_id":"ENSG00000170262"}},"GRch38":{"90":{"location":"21:32291813-32314784","ensembl_id":"ENSG00000170262"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"MRAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Glucocorticoid deficiency 2, MIM#\t607398"],"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":["CRS2","FPP","HOX8","MSH","PFM"],"biotype":"protein_coding","hgnc_id":"HGNC:7392","gene_name":"msh homeobox 2","omim_gene":["123101"],"alias_name":["craniosynostosis, type 2"],"gene_symbol":"MSX2","hgnc_symbol":"MSX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:174151536-174157896","ensembl_id":"ENSG00000120149"}},"GRch38":{"90":{"location":"5:174724533-174730893","ensembl_id":"ENSG00000120149"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"MSX2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Craniosynostosis 2 (MIM#604757)","Parietal foramina 1 (MIM#168500)","Parietal foramina with cleidocranial dysplasia (MIM#168550)"],"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:7448","gene_name":"myotubularin 1","omim_gene":["300415"],"alias_name":null,"gene_symbol":"MTM1","hgnc_symbol":"MTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:149737069-149841795","ensembl_id":"ENSG00000171100"}},"GRch38":{"90":{"location":"X:150568619-150673322","ensembl_id":"ENSG00000171100"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MTM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Myopathy, centronuclear, X-linked, MIM# 310400"],"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":["cblG"],"biotype":"protein_coding","hgnc_id":"HGNC:7468","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase","omim_gene":["156570"],"alias_name":null,"gene_symbol":"MTR","hgnc_symbol":"MTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:236958610-237067281","ensembl_id":"ENSG00000116984"}},"GRch38":{"90":{"location":"1:236795281-236903981","ensembl_id":"ENSG00000116984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25526710"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940"],"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":["cblE"],"biotype":"protein_coding","hgnc_id":"HGNC:7473","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase reductase","omim_gene":["602568"],"alias_name":null,"gene_symbol":"MTRR","hgnc_symbol":"MTRR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:7851299-7906138","ensembl_id":"ENSG00000124275"}},"GRch38":{"90":{"location":"5:7851186-7906025","ensembl_id":"ENSG00000124275"}}},"hgnc_date_symbol_changed":"1998-04-20"},"entity_type":"gene","entity_name":"MTRR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25526710"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Methylmalonic aciduria and homocystinuria, MIM#236270"],"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":["ABL"],"biotype":"protein_coding","hgnc_id":"HGNC:7467","gene_name":"microsomal triglyceride transfer protein","omim_gene":["157147"],"alias_name":null,"gene_symbol":"MTTP","hgnc_symbol":"MTTP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100484918-100545156","ensembl_id":"ENSG00000138823"}},"GRch38":{"90":{"location":"4:99563761-99623999","ensembl_id":"ENSG00000138823"}}},"hgnc_date_symbol_changed":"2005-11-04"},"entity_type":"gene","entity_name":"MTTP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Abetalipoproteinemia, MIM# 200100"],"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:7525","gene_name":"muscle associated receptor tyrosine kinase","omim_gene":["601296"],"alias_name":null,"gene_symbol":"MUSK","hgnc_symbol":"MUSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:113431051-113563859","ensembl_id":"ENSG00000030304"}},"GRch38":{"90":{"location":"9:110668771-110801620","ensembl_id":"ENSG00000030304"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"MUSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS:BabySeq Category A gene"],"phenotypes":["Congenital myasthenic syndrome, MIM#616325"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MYH"],"biotype":"protein_coding","hgnc_id":"HGNC:7527","gene_name":"mutY DNA glycosylase","omim_gene":["604933"],"alias_name":null,"gene_symbol":"MUTYH","hgnc_symbol":"MUTYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45794835-45806142","ensembl_id":"ENSG00000132781"}},"GRch38":{"90":{"location":"1:45329163-45340470","ensembl_id":"ENSG00000132781"}}},"hgnc_date_symbol_changed":"1997-10-24"},"entity_type":"gene","entity_name":"MUTYH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Adenomas, multiple colorectal, MIM# 608456"],"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":["LRBP","MK"],"biotype":"protein_coding","hgnc_id":"HGNC:7530","gene_name":"mevalonate kinase","omim_gene":["251170"],"alias_name":["LH receptor mRNA-binding protein","mevalonic aciduria"],"gene_symbol":"MVK","hgnc_symbol":"MVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110011060-110035067","ensembl_id":"ENSG00000110921"}},"GRch38":{"90":{"location":"12:109573255-109598117","ensembl_id":"ENSG00000110921"}}},"hgnc_date_symbol_changed":"1992-10-06"},"entity_type":"gene","entity_name":"MVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32066461"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Mevalonic aciduria, MIM# 610377"],"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:7549","gene_name":"myosin binding protein C, slow type","omim_gene":["160794"],"alias_name":null,"gene_symbol":"MYBPC1","hgnc_symbol":"MYBPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:101962131-102079796","ensembl_id":"ENSG00000196091"}},"GRch38":{"90":{"location":"12:101568353-101686018","ensembl_id":"ENSG00000196091"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"MYBPC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23873045","20045868","22610851","26661508","31025394","31264822"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Myopathy, congenital, with tremor MIM#618524","Lethal congenital contracture syndrome 4, MIM# 614915","Arthrogryposis, distal, type 1B 614335"],"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":["bHLHe37","N-myc","MYCNOT"],"biotype":"protein_coding","hgnc_id":"HGNC:7559","gene_name":"MYCN proto-oncogene, bHLH transcription factor","omim_gene":["164840"],"alias_name":null,"gene_symbol":"MYCN","hgnc_symbol":"MYCN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:16080686-16087129","ensembl_id":"ENSG00000134323"}},"GRch38":{"90":{"location":"2:15940564-15947007","ensembl_id":"ENSG00000134323"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MYCN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Feingold syndrome 1, MIM# 164280"],"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":["FLJ13881","KIAA2034","MHC16","MYH17"],"biotype":"protein_coding","hgnc_id":"HGNC:23212","gene_name":"myosin heavy chain 14","omim_gene":["608568"],"alias_name":null,"gene_symbol":"MYH14","hgnc_symbol":"MYH14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50691443-50813802","ensembl_id":"ENSG00000105357"}},"GRch38":{"90":{"location":"19:50188186-50310545","ensembl_id":"ENSG00000105357"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"MYH14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["34681017"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal dominant 4A, MIM# 600652","Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369"],"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":["MYH2A","MYHSA2","MyHC-IIa","MYHas8","MyHC-2A"],"biotype":"protein_coding","hgnc_id":"HGNC:7572","gene_name":"myosin heavy chain 2","omim_gene":["160740"],"alias_name":null,"gene_symbol":"MYH2","hgnc_symbol":"MYH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:10424465-10453274","ensembl_id":"ENSG00000125414"}},"GRch38":{"90":{"location":"17:10521148-10549957","ensembl_id":"ENSG00000125414"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MYH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Proximal myopathy and ophthalmoplegia, MIM# 605637"],"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":["MYHC-EMB","MYHSE1","HEMHC","SMHCE"],"biotype":"protein_coding","hgnc_id":"HGNC:7573","gene_name":"myosin heavy chain 3","omim_gene":["160720"],"alias_name":["myosin, skeletal, heavy chain, embryonic 1","muscle embryonic myosin heavy chain 3"],"gene_symbol":"MYH3","hgnc_symbol":"MYH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:10531843-10560626","ensembl_id":"ENSG00000109063"}},"GRch38":{"90":{"location":"17:10628526-10657309","ensembl_id":"ENSG00000109063"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MYH3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700","Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436","Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110","Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469"],"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":["CMD1S"],"biotype":"protein_coding","hgnc_id":"HGNC:7577","gene_name":"myosin heavy chain 7","omim_gene":["160760"],"alias_name":null,"gene_symbol":"MYH7","hgnc_symbol":"MYH7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23881947-23904927","ensembl_id":"ENSG00000092054"}},"GRch38":{"90":{"location":"14:23412738-23435718","ensembl_id":"ENSG00000092054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MYH7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene","BabySeq Category B gene"],"phenotypes":["Cardiomyopathy, hypertrophic, 1, MIM# 192600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cardiac","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NMMHCA","NMHC-II-A","MHA","FTNS","EPSTS"],"biotype":"protein_coding","hgnc_id":"HGNC:7579","gene_name":"myosin heavy chain 9","omim_gene":["160775"],"alias_name":["nonmuscle myosin heavy chain II-A"],"gene_symbol":"MYH9","hgnc_symbol":"MYH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:36677327-36784063","ensembl_id":"ENSG00000100345"}},"GRch38":{"90":{"location":"22:36281281-36388018","ensembl_id":"ENSG00000100345"}}},"hgnc_date_symbol_changed":"1990-03-12"},"entity_type":"gene","entity_name":"MYH9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal dominant 17, MIM# 603622","Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100"],"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:7594","gene_name":"myosin XVA","omim_gene":["602666"],"alias_name":null,"gene_symbol":"MYO15A","hgnc_symbol":"MYO15A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18012020-18083116","ensembl_id":"ENSG00000091536"}},"GRch38":{"90":{"location":"17:18108706-18179802","ensembl_id":"ENSG00000091536"}}},"hgnc_date_symbol_changed":"1998-05-29"},"entity_type":"gene","entity_name":"MYO15A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 3, MIM# 600316"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7601","gene_name":"myosin IIIA","omim_gene":["606808"],"alias_name":null,"gene_symbol":"MYO3A","hgnc_symbol":"MYO3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:26223196-26501456","ensembl_id":"ENSG00000095777"}},"GRch38":{"90":{"location":"10:25934267-26212527","ensembl_id":"ENSG00000095777"}}},"hgnc_date_symbol_changed":"2000-05-16"},"entity_type":"gene","entity_name":"MYO3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 30, MIM:607101"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0389"],"biotype":"protein_coding","hgnc_id":"HGNC:7605","gene_name":"myosin VI","omim_gene":["600970"],"alias_name":null,"gene_symbol":"MYO6","hgnc_symbol":"MYO6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:76458909-76629254","ensembl_id":"ENSG00000196586"}},"GRch38":{"90":{"location":"6:75749192-75919537","ensembl_id":"ENSG00000196586"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 37, MIM# 607821"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NSRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:7606","gene_name":"myosin VIIA","omim_gene":["276903"],"alias_name":null,"gene_symbol":"MYO7A","hgnc_symbol":"MYO7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:76839310-76926284","ensembl_id":"ENSG00000137474"}},"GRch38":{"90":{"location":"11:77128264-77215239","ensembl_id":"ENSG00000137474"}}},"hgnc_date_symbol_changed":"1992-06-08"},"entity_type":"gene","entity_name":"MYO7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 2, 600060","Usher syndrome, type 1B, MIM# 276900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11061","FLJ13244","MGC71859"],"biotype":"protein_coding","hgnc_id":"HGNC:7608","gene_name":"myosin IXA","omim_gene":["604875"],"alias_name":null,"gene_symbol":"MYO9A","hgnc_symbol":"MYO9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72114632-72410918","ensembl_id":"ENSG00000066933"}},"GRch38":{"90":{"location":"15:71822289-72118577","ensembl_id":"ENSG00000066933"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO9A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Myasthenic syndrome, congenital, 24, presynaptic, MIM#\t618198"],"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":["KIAA1915"],"biotype":"protein_coding","hgnc_id":"HGNC:29401","gene_name":"Myb like, SWIRM and MPN domains 1","omim_gene":["612176"],"alias_name":null,"gene_symbol":"MYSM1","hgnc_symbol":"MYSM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:59120411-59165764","ensembl_id":"ENSG00000162601"}},"GRch38":{"90":{"location":"1:58654739-58700092","ensembl_id":"ENSG00000162601"}}},"hgnc_date_symbol_changed":"2005-07-14"},"entity_type":"gene","entity_name":"MYSM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Bone marrow failure syndrome 4, MIM#\t618116"],"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":["D22S674"],"biotype":"protein_coding","hgnc_id":"HGNC:7631","gene_name":"alpha-N-acetylgalactosaminidase","omim_gene":["104170"],"alias_name":null,"gene_symbol":"NAGA","hgnc_symbol":"NAGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42454358-42466846","ensembl_id":"ENSG00000198951"}},"GRch38":{"90":{"location":"22:42058354-42070842","ensembl_id":"ENSG00000198951"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NAGA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Kanzaki disease, MIM# 609242"],"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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920"],"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":["AGAS","ARGA","NAT7"],"biotype":"protein_coding","hgnc_id":"HGNC:17996","gene_name":"N-acetylglutamate synthase","omim_gene":["608300"],"alias_name":null,"gene_symbol":"NAGS","hgnc_symbol":"NAGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42081914-42086431","ensembl_id":"ENSG00000161653"}},"GRch38":{"90":{"location":"17:44004546-44009063","ensembl_id":"ENSG00000161653"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"NAGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["N-acetylglutamate synthetase deficiency, MIM#237310"],"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":["ATV","AT-V2","AT-V1"],"biotype":"protein_coding","hgnc_id":"HGNC:7652","gene_name":"nibrin","omim_gene":["602667"],"alias_name":null,"gene_symbol":"NBN","hgnc_symbol":"NBN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:90945564-91015456","ensembl_id":"ENSG00000104320"}},"GRch38":{"90":{"location":"8:89933336-90003228","ensembl_id":"ENSG00000104320"}}},"hgnc_date_symbol_changed":"2005-06-02"},"entity_type":"gene","entity_name":"NBN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene","BeginNGS"],"phenotypes":["Nijmegen breakage syndrome, MIM#251260"],"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":["p47phox","NOXO2","NCF1A","SH3PXD1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7660","gene_name":"neutrophil cytosolic factor 1","omim_gene":["608512"],"alias_name":["NADPH oxidase organizer 2","chronic granulomatous disease, autosomal 1"],"gene_symbol":"NCF1","hgnc_symbol":"NCF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:74188309-74203659","ensembl_id":"ENSG00000158517"}},"GRch38":{"90":{"location":"7:74773962-74789315","ensembl_id":"ENSG00000158517"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"NCF1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27178966"],"evidence":["Expert Review Amber","BabySeq Category A gene","BeginNGS"],"phenotypes":["Chronic granulomatous disease, MIM#233700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological","technically challenging"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p67phox","NOXA2"],"biotype":"protein_coding","hgnc_id":"HGNC:7661","gene_name":"neutrophil cytosolic factor 2","omim_gene":["608515"],"alias_name":["NADPH oxidase activator 2","chronic granulomatous disease, autosomal 2"],"gene_symbol":"NCF2","hgnc_symbol":"NCF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:183524698-183560011","ensembl_id":"ENSG00000116701"}},"GRch38":{"90":{"location":"1:183555563-183590876","ensembl_id":"ENSG00000116701"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"NCF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27178966"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Chronic granulomatous disease, MIM#233710"],"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":["p40phox","SH3PXD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7662","gene_name":"neutrophil cytosolic factor 4","omim_gene":["601488"],"alias_name":["neutrophil NADPH oxidase factor 4"],"gene_symbol":"NCF4","hgnc_symbol":"NCF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37257030-37274057","ensembl_id":"ENSG00000100365"}},"GRch38":{"90":{"location":"22:36860988-36878015","ensembl_id":"ENSG00000100365"}}},"hgnc_date_symbol_changed":"1996-06-19"},"entity_type":"gene","entity_name":"NCF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960"],"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":["norrin"],"biotype":"protein_coding","hgnc_id":"HGNC:7678","gene_name":"NDP, norrin cystine knot growth factor","omim_gene":["300658"],"alias_name":null,"gene_symbol":"NDP","hgnc_symbol":"NDP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:43808022-43832750","ensembl_id":"ENSG00000124479"}},"GRch38":{"90":{"location":"X:43948776-43973504","ensembl_id":"ENSG00000124479"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NDP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Norrie disease, MIM# 310600"],"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":["NEB177D"],"biotype":"protein_coding","hgnc_id":"HGNC:7720","gene_name":"nebulin","omim_gene":["161650"],"alias_name":["nemaline myopathy type 2"],"gene_symbol":"NEB","hgnc_symbol":"NEB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:152341850-152591001","ensembl_id":"ENSG00000183091"}},"GRch38":{"90":{"location":"2:151485336-151734487","ensembl_id":"ENSG00000183091"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Nemaline myopathy 2, autosomal recessive 256030","Arthrogryposis multiplex congenita 6, MIM# 619334"],"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":["NFL","CMT1F","CMT2E","NF68","PPP1R110"],"biotype":null,"hgnc_id":"HGNC:7739","gene_name":"neurofilament light","omim_gene":["162280"],"alias_name":["protein phosphatase 1, regulatory subunit 110"],"gene_symbol":"NEFL","hgnc_symbol":"NEFL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:24808468-24814624","ensembl_id":"ENSG00000104725"}},"GRch38":{"90":{"location":"8:24950955-24957110","ensembl_id":"ENSG00000277586"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEFL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882","Charcot-Marie-Tooth disease, type 1F, MIM# 607734","Charcot-Marie-Tooth disease, type 2E 607684"],"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":["NY-REN-55","KIAA1901"],"biotype":"protein_coding","hgnc_id":"HGNC:7744","gene_name":"NIMA related kinase 1","omim_gene":["604588"],"alias_name":null,"gene_symbol":"NEK1","hgnc_symbol":"NEK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:170314426-170533780","ensembl_id":"ENSG00000137601"}},"GRch38":{"90":{"location":"4:169392857-169612629","ensembl_id":"ENSG00000137601"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"NEK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22499340","21211617","28123176","25492405"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520"],"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":["NPHP9"],"biotype":"protein_coding","hgnc_id":"HGNC:13387","gene_name":"NIMA related kinase 8","omim_gene":["609799"],"alias_name":null,"gene_symbol":"NEK8","hgnc_symbol":"NEK8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:27052915-27070473","ensembl_id":"ENSG00000160602"}},"GRch38":{"90":{"location":"17:28725897-28743455","ensembl_id":"ENSG00000160602"}}},"hgnc_date_symbol_changed":"2004-10-20"},"entity_type":"gene","entity_name":"NEK8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26967905","33131162","26697755","23274954","26862157","31633649","23418306"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["MONDO:0014174","Renal-hepatic-pancreatic dysplasia 2, MIM# 615415"],"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:7758","gene_name":"neuraminidase 1","omim_gene":["608272"],"alias_name":null,"gene_symbol":"NEU1","hgnc_symbol":"NEU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31825436-31830683","ensembl_id":"ENSG00000204386"}},"GRch38":{"90":{"location":"6:31857659-31862906","ensembl_id":"ENSG00000204386"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEU1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Sialidosis, type I and type II, MIM# 256550"],"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":["Atoh5","Math4B","ngn3","bHLHa7"],"biotype":"protein_coding","hgnc_id":"HGNC:13806","gene_name":"neurogenin 3","omim_gene":["604882"],"alias_name":null,"gene_symbol":"NEUROG3","hgnc_symbol":"NEUROG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:71331454-71332994","ensembl_id":"ENSG00000122859"}},"GRch38":{"90":{"location":"10:69571698-69573238","ensembl_id":"ENSG00000122859"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"NEUROG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32574610","16855267","21490072","28724572"],"evidence":["Expert Review Green","BabySeq Category C gene","BeginNGS"],"phenotypes":["Diarrhoea 4, malabsorptive, congenital, MIM# 610370"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","gastrointestinal"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7765","gene_name":"neurofibromin 1","omim_gene":["613113"],"alias_name":["neurofibromatosis","von Recklinghausen disease","Watson disease"],"gene_symbol":"NF1","hgnc_symbol":"NF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:29421945-29709134","ensembl_id":"ENSG00000196712"}},"GRch38":{"90":{"location":"17:31094927-31382116","ensembl_id":"ENSG00000196712"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31010905"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Neurofibromatosis, type 1, MIM# 162200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["merlin","ACN","SCH","BANF"],"biotype":"protein_coding","hgnc_id":"HGNC:7773","gene_name":"neurofibromin 2","omim_gene":["607379"],"alias_name":["moesin-ezrin-radixin like","schwannomin"],"gene_symbol":"NF2","hgnc_symbol":"NF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29999545-30094587","ensembl_id":"ENSG00000186575"}},"GRch38":{"90":{"location":"22:29603556-29698598","ensembl_id":"ENSG00000186575"}}},"hgnc_date_symbol_changed":"1992-01-01"},"entity_type":"gene","entity_name":"NF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Neurofibromatosis, type 2 (MIM# 101000)"],"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":["FLJ11005","PNG1"],"biotype":"protein_coding","hgnc_id":"HGNC:17646","gene_name":"N-glycanase 1","omim_gene":["610661"],"alias_name":["peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase"],"gene_symbol":"NGLY1","hgnc_symbol":"NGLY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:25760435-25831530","ensembl_id":"ENSG00000151092"}},"GRch38":{"90":{"location":"3:25718944-25790039","ensembl_id":"ENSG00000151092"}}},"hgnc_date_symbol_changed":"2002-06-07"},"entity_type":"gene","entity_name":"NGLY1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Congenital disorder of deglycosylation, MIM# 615273"],"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":["Cernunnos","XLF","FLJ12610"],"biotype":"protein_coding","hgnc_id":"HGNC:25737","gene_name":"non-homologous end joining factor 1","omim_gene":["611290"],"alias_name":["XRCC4-like factor"],"gene_symbol":"NHEJ1","hgnc_symbol":"NHEJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219940039-220025587","ensembl_id":"ENSG00000187736"}},"GRch38":{"90":{"location":"2:219075317-219160865","ensembl_id":"ENSG00000187736"}}},"hgnc_date_symbol_changed":"2006-03-30"},"entity_type":"gene","entity_name":"NHEJ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291"],"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":["bA204B7.2","EPM2B","malin"],"biotype":"protein_coding","hgnc_id":"HGNC:21576","gene_name":"NHL repeat containing E3 ubiquitin protein ligase 1","omim_gene":["608072"],"alias_name":["epilepsy, progressive myoclonus type 2B"],"gene_symbol":"NHLRC1","hgnc_symbol":"NHLRC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:18120718-18122851","ensembl_id":"ENSG00000187566"}},"GRch38":{"90":{"location":"6:18120440-18122687","ensembl_id":"ENSG00000187566"}}},"hgnc_date_symbol_changed":"2003-10-06"},"entity_type":"gene","entity_name":"NHLRC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780"],"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":["ICHYN"],"biotype":"protein_coding","hgnc_id":"HGNC:28018","gene_name":"NIPA like domain containing 4","omim_gene":["609383"],"alias_name":["ichthyin"],"gene_symbol":"NIPAL4","hgnc_symbol":"NIPAL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:156887027-156901725","ensembl_id":"ENSG00000172548"}},"GRch38":{"90":{"location":"5:157460019-157474717","ensembl_id":"ENSG00000172548"}}},"hgnc_date_symbol_changed":"2009-03-24"},"entity_type":"gene","entity_name":"NIPAL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31532840"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 6, MIM# 612281"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","dermatological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cornelia de Lange syndrome 1, MIM# 122470"],"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":["TTF-1","TTF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11825","gene_name":"NK2 homeobox 1","omim_gene":["600635"],"alias_name":null,"gene_symbol":"NKX2-1","hgnc_symbol":"NKX2-1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:36985602-36990354","ensembl_id":"ENSG00000136352"}},"GRch38":{"90":{"location":"14:36516392-36521149","ensembl_id":"ENSG00000136352"}}},"hgnc_date_symbol_changed":"2007-07-26"},"entity_type":"gene","entity_name":"NKX2-1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7863","gene_name":"nicotinamide nucleotide transhydrogenase","omim_gene":["607878"],"alias_name":null,"gene_symbol":"NNT","hgnc_symbol":"NNT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:43602794-43707507","ensembl_id":"ENSG00000112992"}},"GRch38":{"90":{"location":"5:43602692-43707405","ensembl_id":"ENSG00000112992"}}},"hgnc_date_symbol_changed":"1999-11-16"},"entity_type":"gene","entity_name":"NNT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26548497"],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM#\t614736"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7866","gene_name":"noggin","omim_gene":["602991"],"alias_name":null,"gene_symbol":"NOG","hgnc_symbol":"NOG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:54671060-54672951","ensembl_id":"ENSG00000183691"}},"GRch38":{"90":{"location":"17:56593699-56595590","ensembl_id":"ENSG00000183691"}}},"hgnc_date_symbol_changed":"1999-03-24"},"entity_type":"gene","entity_name":"NOG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["NOG-related symphalangism spectrum disorder MONDO:0100521"],"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:7882","gene_name":"notch 2","omim_gene":["600275"],"alias_name":null,"gene_symbol":"NOTCH2","hgnc_symbol":"NOTCH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:120454176-120612240","ensembl_id":"ENSG00000134250"}},"GRch38":{"90":{"location":"1:119911553-120069626","ensembl_id":"ENSG00000134250"}}},"hgnc_date_symbol_changed":"1994-11-10"},"entity_type":"gene","entity_name":"NOTCH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Alagille syndrome 2 (MIM#610205)","Hajdu-Cheney syndrome (MIM#102500)"],"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":["CASIL"],"biotype":"protein_coding","hgnc_id":"HGNC:7883","gene_name":"notch 3","omim_gene":["600276"],"alias_name":null,"gene_symbol":"NOTCH3","hgnc_symbol":"NOTCH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:15270444-15311792","ensembl_id":"ENSG00000074181"}},"GRch38":{"90":{"location":"19:15159038-15200981","ensembl_id":"ENSG00000074181"}}},"hgnc_date_symbol_changed":"1994-07-04"},"entity_type":"gene","entity_name":"NOTCH3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310"],"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:7897","gene_name":"NPC intracellular cholesterol transporter 1","omim_gene":["607623"],"alias_name":null,"gene_symbol":"NPC1","hgnc_symbol":"NPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:21086148-21166862","ensembl_id":"ENSG00000141458"}},"GRch38":{"90":{"location":"18:23506184-23586898","ensembl_id":"ENSG00000141458"}}},"hgnc_date_symbol_changed":"1993-04-13"},"entity_type":"gene","entity_name":"NPC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29625568"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Niemann-Pick disease type C1, MIM#257220"],"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":["HE1","NP-C2","EDDM1"],"biotype":"protein_coding","hgnc_id":"HGNC:14537","gene_name":"NPC intracellular cholesterol transporter 2","omim_gene":["601015"],"alias_name":["epididymal protein 1"],"gene_symbol":"NPC2","hgnc_symbol":"NPC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74942895-74960880","ensembl_id":"ENSG00000119655"}},"GRch38":{"90":{"location":"14:74476192-74494177","ensembl_id":"ENSG00000119655"}}},"hgnc_date_symbol_changed":"2001-05-11"},"entity_type":"gene","entity_name":"NPC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29625568"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Niemann-Pick disease type C2, MIM#607625"],"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":["JBTS4","SLSN1"],"biotype":"protein_coding","hgnc_id":"HGNC:7905","gene_name":"nephrocystin 1","omim_gene":["607100"],"alias_name":null,"gene_symbol":"NPHP1","hgnc_symbol":"NPHP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:110879888-110962643","ensembl_id":"ENSG00000144061"}},"GRch38":{"90":{"location":"2:110122311-110205066","ensembl_id":"ENSG00000144061"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"NPHP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Joubert syndrome 4, MIM# 609583","Nephronophthisis 1, juvenile, MIM# 256100","Senior-Loken syndrome-1, MIM# 266900"],"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":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Renal-hepatic-pancreatic dysplasia 1, MIM# 208540"],"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":["SLSN4","KIAA0673","POC10"],"biotype":"protein_coding","hgnc_id":"HGNC:19104","gene_name":"nephrocystin 4","omim_gene":["607215"],"alias_name":["nephroretinin","POC10 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"NPHP4","hgnc_symbol":"NPHP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:5922871-6052533","ensembl_id":"ENSG00000131697"}},"GRch38":{"90":{"location":"1:5862811-5992473","ensembl_id":"ENSG00000131697"}}},"hgnc_date_symbol_changed":"2002-10-03"},"entity_type":"gene","entity_name":"NPHP4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996"],"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":["CNF","NPHN"],"biotype":"protein_coding","hgnc_id":"HGNC:7908","gene_name":"NPHS1, nephrin","omim_gene":["602716"],"alias_name":null,"gene_symbol":"NPHS1","hgnc_symbol":"NPHS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36316866-36360189","ensembl_id":"ENSG00000161270"}},"GRch38":{"90":{"location":"19:35825964-35869287","ensembl_id":"ENSG00000161270"}}},"hgnc_date_symbol_changed":"1994-12-14"},"entity_type":"gene","entity_name":"NPHS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Nephrotic syndrome, type 1, MIM# 256300"],"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}]}