{"count":35532,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=257","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=255","results":[{"gene_data":{"alias":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Diamond-Blackfan anemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DBA","S19"],"biotype":"protein_coding","hgnc_id":"HGNC:10402","gene_name":"ribosomal protein S19","omim_gene":["603474"],"alias_name":["Diamond-Blackfan anemia"],"gene_symbol":"RPS19","hgnc_symbol":"RPS19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42363988-42376994","ensembl_id":"ENSG00000105372"}},"GRch38":{"90":{"location":"19:41859918-41872926","ensembl_id":"ENSG00000105372"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"RPS19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Diamond-Blackfan anemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S24"],"biotype":"protein_coding","hgnc_id":"HGNC:10411","gene_name":"ribosomal protein S24","omim_gene":["602412"],"alias_name":null,"gene_symbol":"RPS24","hgnc_symbol":"RPS24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79793518-79816570","ensembl_id":"ENSG00000138326"}},"GRch38":{"90":{"location":"10:78033760-78056812","ensembl_id":"ENSG00000138326"}}},"hgnc_date_symbol_changed":"1990-08-22"},"entity_type":"gene","entity_name":"RPS24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Diamond-Blackfan anemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S26"],"biotype":"protein_coding","hgnc_id":"HGNC:10414","gene_name":"ribosomal protein S26","omim_gene":["603701"],"alias_name":["40S ribosomal protein S26"],"gene_symbol":"RPS26","hgnc_symbol":"RPS26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56435637-56438116","ensembl_id":"ENSG00000197728"}},"GRch38":{"90":{"location":"12:56041853-56044675","ensembl_id":"ENSG00000197728"}}},"hgnc_date_symbol_changed":"1993-01-19"},"entity_type":"gene","entity_name":"RPS26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Diamond-Blackfan anemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RSK","RSK2","HU-3"],"biotype":"protein_coding","hgnc_id":"HGNC:10432","gene_name":"ribosomal protein S6 kinase A3","omim_gene":["300075"],"alias_name":null,"gene_symbol":"RPS6KA3","hgnc_symbol":"RPS6KA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:20168029-20285523","ensembl_id":"ENSG00000177189"}},"GRch38":{"90":{"location":"X:20149911-20267100","ensembl_id":"ENSG00000177189"}}},"hgnc_date_symbol_changed":"1994-07-11"},"entity_type":"gene","entity_name":"RPS6KA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Coffin-Lowry syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p53R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17296","gene_name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","omim_gene":["604712"],"alias_name":null,"gene_symbol":"RRM2B","hgnc_symbol":"RRM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:103216730-103251346","ensembl_id":"ENSG00000048392"}},"GRch38":{"90":{"location":"8:102204502-102239118","ensembl_id":"ENSG00000048392"}}},"hgnc_date_symbol_changed":"2002-01-14"},"entity_type":"gene","entity_name":"RRM2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XLRS1"],"biotype":"protein_coding","hgnc_id":"HGNC:10457","gene_name":"retinoschisin 1","omim_gene":["300839"],"alias_name":null,"gene_symbol":"RS1","hgnc_symbol":"RS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:18658030-18690229","ensembl_id":"ENSG00000102104"}},"GRch38":{"90":{"location":"X:18639910-18672109","ensembl_id":"ENSG00000102104"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"RS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Retinoschisis, X linked"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ412I7.1","FLJ37974","RSPH6B","CILD11"],"biotype":"protein_coding","hgnc_id":"HGNC:21558","gene_name":"radial spoke head 4 homolog A","omim_gene":["612647"],"alias_name":null,"gene_symbol":"RSPH4A","hgnc_symbol":"RSPH4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116937642-116954148","ensembl_id":"ENSG00000111834"}},"GRch38":{"90":{"location":"6:116616479-116632985","ensembl_id":"ENSG00000111834"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ciliary dyskinesia, primary"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30845","CILD12"],"biotype":"protein_coding","hgnc_id":"HGNC:21057","gene_name":"radial spoke head 9 homolog","omim_gene":["612648"],"alias_name":null,"gene_symbol":"RSPH9","hgnc_symbol":"RSPH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43612783-43640336","ensembl_id":"ENSG00000172426"}},"GRch38":{"90":{"location":"6:43645046-43672599","ensembl_id":"ENSG00000172426"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ciliary dyskinesia, primary"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AML3","PEBP2A1","PEBP2aA1"],"biotype":"protein_coding","hgnc_id":"HGNC:10472","gene_name":"runt related transcription factor 2","omim_gene":["600211"],"alias_name":null,"gene_symbol":"RUNX2","hgnc_symbol":"RUNX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:45295894-45632086","ensembl_id":"ENSG00000124813"}},"GRch38":{"90":{"location":"6:45328157-45664349","ensembl_id":"ENSG00000124813"}}},"hgnc_date_symbol_changed":"1994-11-02"},"entity_type":"gene","entity_name":"RUNX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cleidocranial dysostosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RYR","PPP1R137"],"biotype":"protein_coding","hgnc_id":"HGNC:10483","gene_name":"ryanodine receptor 1","omim_gene":["180901"],"alias_name":["protein phosphatase 1, regulatory subunit 137"],"gene_symbol":"RYR1","hgnc_symbol":"RYR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38924339-39078204","ensembl_id":"ENSG00000196218"}},"GRch38":{"90":{"location":"19:38433699-38587564","ensembl_id":"ENSG00000196218"}}},"hgnc_date_symbol_changed":"1989-12-01"},"entity_type":"gene","entity_name":"RYR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category B gene","BabySeq Category A gene"],"phenotypes":["Malignant hyperthermia, multiminicore disease MIM#180901"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARVC2","VTSIP"],"biotype":"protein_coding","hgnc_id":"HGNC:10484","gene_name":"ryanodine receptor 2","omim_gene":["180902"],"alias_name":null,"gene_symbol":"RYR2","hgnc_symbol":"RYR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:237205505-237997288","ensembl_id":"ENSG00000198626"}},"GRch38":{"90":{"location":"1:237042205-237833988","ensembl_id":"ENSG00000198626"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"RYR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ventricular tachycardia, catecholaminergic polymorphic","Arrhythmogenic right ventricular dysplasia 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARSACS","KIAA0730","DKFZp686B15167","DNAJC29","SPAX6","PPP1R138"],"biotype":"protein_coding","hgnc_id":"HGNC:10519","gene_name":"sacsin molecular chaperone","omim_gene":["604490"],"alias_name":["protein phosphatase 1, regulatory subunit 138"],"gene_symbol":"SACS","hgnc_symbol":"SACS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:23902965-24007841","ensembl_id":"ENSG00000151835"}},"GRch38":{"90":{"location":"13:23328826-23411513","ensembl_id":"ENSG00000151835"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"SACS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spastic ataxia Charlevoix-Saguenay type"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Hsal1","ZNF794"],"biotype":"protein_coding","hgnc_id":"HGNC:10524","gene_name":"spalt like transcription factor 1","omim_gene":["602218"],"alias_name":null,"gene_symbol":"SALL1","hgnc_symbol":"SALL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:51169886-51185278","ensembl_id":"ENSG00000103449"}},"GRch38":{"90":{"location":"16:51135975-51151367","ensembl_id":"ENSG00000103449"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"SALL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Townes-Brocks syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBBI88","Mg11","HDDC1","MOP-5","AGS5"],"biotype":"protein_coding","hgnc_id":"HGNC:15925","gene_name":"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","omim_gene":["606754"],"alias_name":["HD domain containing 1","monocyte protein 5","Aicardi-Goutieres syndrome 5"],"gene_symbol":"SAMHD1","hgnc_symbol":"SAMHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:35518632-35580246","ensembl_id":"ENSG00000101347"}},"GRch38":{"90":{"location":"20:36890229-36951843","ensembl_id":"ENSG00000101347"}}},"hgnc_date_symbol_changed":"2001-07-31"},"entity_type":"gene","entity_name":"SAMHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Aicardi-Goutieres syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-97","FLJ10917","SDS","SWDS"],"biotype":"protein_coding","hgnc_id":"HGNC:19440","gene_name":"SBDS, ribosome maturation factor","omim_gene":["607444"],"alias_name":null,"gene_symbol":"SBDS","hgnc_symbol":"SBDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:66452664-66460588","ensembl_id":"ENSG00000126524"}},"GRch38":{"90":{"location":"7:66987677-66995601","ensembl_id":"ENSG00000126524"}}},"hgnc_date_symbol_changed":"2003-07-02"},"entity_type":"gene","entity_name":"SBDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Shwachman-Bodian-Diamond syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.9","NaN","SNS-2"],"biotype":"protein_coding","hgnc_id":"HGNC:10583","gene_name":"sodium voltage-gated channel alpha subunit 11","omim_gene":["604385"],"alias_name":null,"gene_symbol":"SCN11A","hgnc_symbol":"SCN11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38887260-38992052","ensembl_id":"ENSG00000168356"}},"GRch38":{"90":{"location":"3:38845769-38950561","ensembl_id":"ENSG00000168356"}}},"hgnc_date_symbol_changed":"1998-11-06"},"entity_type":"gene","entity_name":"SCN11A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Episodic pain syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Dravet syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.4","HYPP","SkM1"],"biotype":"protein_coding","hgnc_id":"HGNC:10591","gene_name":"sodium voltage-gated channel alpha subunit 4","omim_gene":["603967"],"alias_name":null,"gene_symbol":"SCN4A","hgnc_symbol":"SCN4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62015914-62050278","ensembl_id":"ENSG00000007314"}},"GRch38":{"90":{"location":"17:63938554-63972918","ensembl_id":"ENSG00000007314"}}},"hgnc_date_symbol_changed":"1990-09-30"},"entity_type":"gene","entity_name":"SCN4A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Hyperkalemic periodic paralysis, type 2","Hypokalemic periodic paralysis, type 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ENaCalpha"],"biotype":"protein_coding","hgnc_id":"HGNC:10599","gene_name":"sodium channel epithelial 1 alpha subunit","omim_gene":["600228"],"alias_name":null,"gene_symbol":"SCNN1A","hgnc_symbol":"SCNN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6456009-6486896","ensembl_id":"ENSG00000111319"}},"GRch38":{"90":{"location":"12:6346843-6377730","ensembl_id":"ENSG00000111319"}}},"hgnc_date_symbol_changed":"1994-07-12"},"entity_type":"gene","entity_name":"SCNN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Pseudohypoaldosteronism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ENaCbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:10600","gene_name":"sodium channel epithelial 1 beta subunit","omim_gene":["600760"],"alias_name":["Liddle syndrome"],"gene_symbol":"SCNN1B","hgnc_symbol":"SCNN1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23289552-23392620","ensembl_id":"ENSG00000168447"}},"GRch38":{"90":{"location":"16:23278231-23381299","ensembl_id":"ENSG00000168447"}}},"hgnc_date_symbol_changed":"1994-12-20"},"entity_type":"gene","entity_name":"SCNN1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Pseudohypoaldosteronism, type I MIM# 264350"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCO1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10604","gene_name":"SCO2, cytochrome c oxidase assembly protein","omim_gene":["604272"],"alias_name":null,"gene_symbol":"SCO2","hgnc_symbol":"SCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50961997-50964868","ensembl_id":"ENSG00000130489"}},"GRch38":{"90":{"location":"22:50523568-50525606","ensembl_id":"ENSG00000130489"}}},"hgnc_date_symbol_changed":"1999-10-12"},"entity_type":"gene","entity_name":"SCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cybS"],"biotype":"protein_coding","hgnc_id":"HGNC:10683","gene_name":"succinate dehydrogenase complex subunit D","omim_gene":["602690"],"alias_name":["small subunit of cytochrome b"],"gene_symbol":"SDHD","hgnc_symbol":"SDHD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111957497-111990353","ensembl_id":"ENSG00000204370"}},"GRch38":{"90":{"location":"11:112086773-112120013","ensembl_id":"ENSG00000204370"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"SDHD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hereditary Paraganglioma-Pheochromocytoma Syndromes"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SELN","RSS"],"biotype":"protein_coding","hgnc_id":"HGNC:15999","gene_name":"selenoprotein N","omim_gene":["606210"],"alias_name":null,"gene_symbol":"SELENON","hgnc_symbol":"SELENON","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26126667-26144713","ensembl_id":"ENSG00000162430"}},"GRch38":{"90":{"location":"1:25800176-25818224","ensembl_id":"ENSG00000162430"}}},"hgnc_date_symbol_changed":"2016-09-21"},"entity_type":"gene","entity_name":"SELENON","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Myopathy, congenital, with fiber-type disproportion","Muscular dystrophy, rigid spine"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MSF1","KIAA0991","PNUTL4","AF17q25","SeptD1"],"biotype":"protein_coding","hgnc_id":"HGNC:7323","gene_name":"septin 9","omim_gene":["604061"],"alias_name":["Ov/Br septin"],"gene_symbol":"SEPT9","hgnc_symbol":"SEPT9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:75276651-75496678","ensembl_id":"ENSG00000184640"}},"GRch38":{"90":{"location":"17:77280569-77500596","ensembl_id":"ENSG00000184640"}}},"hgnc_date_symbol_changed":"2005-01-12"},"entity_type":"gene","entity_name":"SEPT9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Amyotrophy, hereditary neuralgic"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEB","KIAA0437"],"biotype":"protein_coding","hgnc_id":"HGNC:15573","gene_name":"SET binding protein 1","omim_gene":["611060"],"alias_name":null,"gene_symbol":"SETBP1","hgnc_symbol":"SETBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:42260138-42648475","ensembl_id":"ENSG00000152217"}},"GRch38":{"90":{"location":"18:44680173-45068510","ensembl_id":"ENSG00000152217"}}},"hgnc_date_symbol_changed":"2001-06-05"},"entity_type":"gene","entity_name":"SETBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Schinzel-Giedion syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0625","AOA2","Sen1"],"biotype":"protein_coding","hgnc_id":"HGNC:445","gene_name":"senataxin","omim_gene":["608465"],"alias_name":null,"gene_symbol":"SETX","hgnc_symbol":"SETX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135136743-135230372","ensembl_id":"ENSG00000107290"}},"GRch38":{"90":{"location":"9:132261356-132354985","ensembl_id":"ENSG00000107290"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"SETX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ataxia-ocular apraxia 2"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SP-B"],"biotype":"protein_coding","hgnc_id":"HGNC:10801","gene_name":"surfactant protein B","omim_gene":["178640"],"alias_name":null,"gene_symbol":"SFTPB","hgnc_symbol":"SFTPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:85884437-85895864","ensembl_id":"ENSG00000168878"}},"GRch38":{"90":{"location":"2:85657314-85668741","ensembl_id":"ENSG00000168878"}}},"hgnc_date_symbol_changed":"1988-07-06"},"entity_type":"gene","entity_name":"SFTPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Surfactant metabolism dysfunction, pulmonary"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCARMD1","LGMD2D","adhalin","DMDA2","A2"],"biotype":"protein_coding","hgnc_id":"HGNC:10805","gene_name":"sarcoglycan alpha","omim_gene":["600119"],"alias_name":["50kD DAG","adhalin","limb girdle muscular dystrophy 2D"],"gene_symbol":"SGCA","hgnc_symbol":"SGCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48241575-48253292","ensembl_id":"ENSG00000108823"}},"GRch38":{"90":{"location":"17:50164214-50175931","ensembl_id":"ENSG00000108823"}}},"hgnc_date_symbol_changed":"1994-12-14"},"entity_type":"gene","entity_name":"SGCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2D"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SGC","A3b"],"biotype":"protein_coding","hgnc_id":"HGNC:10806","gene_name":"sarcoglycan beta","omim_gene":["600900"],"alias_name":null,"gene_symbol":"SGCB","hgnc_symbol":"SGCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:52886872-52904648","ensembl_id":"ENSG00000163069"}},"GRch38":{"90":{"location":"4:52020706-52038482","ensembl_id":"ENSG00000163069"}}},"hgnc_date_symbol_changed":"1995-01-24"},"entity_type":"gene","entity_name":"SGCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2E"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAGD","LGMD2F","CMD1L"],"biotype":"protein_coding","hgnc_id":"HGNC:10807","gene_name":"sarcoglycan delta","omim_gene":["601411"],"alias_name":null,"gene_symbol":"SGCD","hgnc_symbol":"SGCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:155297354-156194799","ensembl_id":"ENSG00000170624"}},"GRch38":{"90":{"location":"5:155870344-156767788","ensembl_id":"ENSG00000170624"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"SGCD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCARMD2","DAGA4","SCG3","DMDA","TYPE","A4","MGC130048"],"biotype":"protein_coding","hgnc_id":"HGNC:10809","gene_name":"sarcoglycan gamma","omim_gene":["608896"],"alias_name":["Maghrebian myopathy (autosomal recessive)","35kD dystrophin-associated glycoprotein","limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)","gamma sarcoglycan"],"gene_symbol":"SGCG","hgnc_symbol":"SGCG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:23755091-23899304","ensembl_id":"ENSG00000102683"}},"GRch38":{"90":{"location":"13:23180952-23325165","ensembl_id":"ENSG00000102683"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"SGCG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2C"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","MPS3A","SFMD"],"biotype":"protein_coding","hgnc_id":"HGNC:10818","gene_name":"N-sulfoglucosamine sulfohydrolase","omim_gene":["605270"],"alias_name":["sulfamidase","mucopolysaccharidosis type IIIA"],"gene_symbol":"SGSH","hgnc_symbol":"SGSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78180515-78194722","ensembl_id":"ENSG00000181523"}},"GRch38":{"90":{"location":"17:80206716-80220923","ensembl_id":"ENSG00000181523"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"SGSH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Mucopolysaccharidisis type IIIA (Sanfilippo A)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XLP","MTCP1","DSHP","XLPD","EBVS","SAP"],"biotype":"protein_coding","hgnc_id":"HGNC:10820","gene_name":"SH2 domain containing 1A","omim_gene":["300490"],"alias_name":["Duncan's disease"],"gene_symbol":"SH2D1A","hgnc_symbol":"SH2D1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:123480194-123507005","ensembl_id":"ENSG00000183918"}},"GRch38":{"90":{"location":"X:124227868-124373197","ensembl_id":"ENSG00000183918"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"SH2D1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Lymphoproliferative syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1985","CMT4C"],"biotype":"protein_coding","hgnc_id":"HGNC:29427","gene_name":"SH3 domain and tetratricopeptide repeats 2","omim_gene":["608206"],"alias_name":null,"gene_symbol":"SH3TC2","hgnc_symbol":"SH3TC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:148303202-148442726","ensembl_id":"ENSG00000169247"}},"GRch38":{"90":{"location":"5:148923639-149063163","ensembl_id":"ENSG00000169247"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"SH3TC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPANK-2","prosap2","KIAA1650","PSAP2"],"biotype":"protein_coding","hgnc_id":"HGNC:14294","gene_name":"SH3 and multiple ankyrin repeat domains 3","omim_gene":["606230"],"alias_name":["proline rich synapse associated protein 2","shank postsynaptic density protein"],"gene_symbol":"SHANK3","hgnc_symbol":"SHANK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51112843-51171726","ensembl_id":"ENSG00000251322"}},"GRch38":{"90":{"location":"22:50674415-50733298","ensembl_id":"ENSG00000251322"}}},"hgnc_date_symbol_changed":"2002-02-22"},"entity_type":"gene","entity_name":"SHANK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30842224","16284256","17173049","20186804","22892527"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Phelan-McDermid syndrome, MIM# 606232","MONDO:0011652"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HHG1","SMMCI","TPT","TPTPS","MCOPCB5"],"biotype":"protein_coding","hgnc_id":"HGNC:10848","gene_name":"sonic hedgehog","omim_gene":["600725"],"alias_name":null,"gene_symbol":"SHH","hgnc_symbol":"SHH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:155592680-155604967","ensembl_id":"ENSG00000164690"}},"GRch38":{"90":{"location":"7:155799986-155812273","ensembl_id":"ENSG00000164690"}}},"hgnc_date_symbol_changed":"1995-03-10"},"entity_type":"gene","entity_name":"SHH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Holoprosencephaly-3"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BAP","ULG5"],"biotype":"protein_coding","hgnc_id":"HGNC:24624","gene_name":"SIL1 nucleotide exchange factor","omim_gene":["608005"],"alias_name":null,"gene_symbol":"SIL1","hgnc_symbol":"SIL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:138282409-138629246","ensembl_id":"ENSG00000120725"}},"GRch38":{"90":{"location":"5:138946720-139293557","ensembl_id":"ENSG00000120725"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"SIL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Marinesco-Sjogren syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10887","gene_name":"SIX homeobox 1","omim_gene":["601205"],"alias_name":null,"gene_symbol":"SIX1","hgnc_symbol":"SIX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:61110133-61124977","ensembl_id":"ENSG00000126778"}},"GRch38":{"90":{"location":"14:60643415-60658259","ensembl_id":"ENSG00000126778"}}},"hgnc_date_symbol_changed":"1995-09-29"},"entity_type":"gene","entity_name":"SIX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Branchiootorenal syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10889","gene_name":"SIX homeobox 3","omim_gene":["603714"],"alias_name":null,"gene_symbol":"SIX3","hgnc_symbol":"SIX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:45168902-45173216","ensembl_id":"ENSG00000138083"}},"GRch38":{"90":{"location":"2:44941898-44946077","ensembl_id":"ENSG00000138083"}}},"hgnc_date_symbol_changed":"1998-04-21"},"entity_type":"gene","entity_name":"SIX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Holoprosencephaly-2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10896","gene_name":"SKI proto-oncogene","omim_gene":["164780"],"alias_name":null,"gene_symbol":"SKI","hgnc_symbol":"SKI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:2160134-2241558","ensembl_id":"ENSG00000157933"}},"GRch38":{"90":{"location":"1:2228695-2310119","ensembl_id":"ENSG00000157933"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SKI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Shprintzen-Goldberg syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NKCC2"],"biotype":"protein_coding","hgnc_id":"HGNC:10910","gene_name":"solute carrier family 12 member 1","omim_gene":["600839"],"alias_name":null,"gene_symbol":"SLC12A1","hgnc_symbol":"SLC12A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:48483861-48596275","ensembl_id":"ENSG00000074803"}},"GRch38":{"90":{"location":"15:48191664-48304078","ensembl_id":"ENSG00000074803"}}},"hgnc_date_symbol_changed":"1994-02-16"},"entity_type":"gene","entity_name":"SLC12A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Bartter syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NCCT"],"biotype":"protein_coding","hgnc_id":"HGNC:10912","gene_name":"solute carrier family 12 member 3","omim_gene":["600968"],"alias_name":null,"gene_symbol":"SLC12A3","hgnc_symbol":"SLC12A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56899119-56949762","ensembl_id":"ENSG00000070915"}},"GRch38":{"90":{"location":"16:56865207-56915850","ensembl_id":"ENSG00000070915"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"SLC12A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Gitelman syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10914","gene_name":"solute carrier family 12 member 6","omim_gene":["604878"],"alias_name":null,"gene_symbol":"SLC12A6","hgnc_symbol":"SLC12A6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:34525460-34630261","ensembl_id":"ENSG00000140199"}},"GRch38":{"90":{"location":"15:34229996-34338060","ensembl_id":"ENSG00000140199"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"SLC12A6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Agenesis of the corpus callosum with peripheral neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XPCT","MCT8","MCT7"],"biotype":"protein_coding","hgnc_id":"HGNC:10923","gene_name":"solute carrier family 16 member 2","omim_gene":["300095"],"alias_name":null,"gene_symbol":"SLC16A2","hgnc_symbol":"SLC16A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:73641085-73753752","ensembl_id":"ENSG00000147100"}},"GRch38":{"90":{"location":"X:74421461-74533917","ensembl_id":"ENSG00000147100"}}},"hgnc_date_symbol_changed":"1994-04-22"},"entity_type":"gene","entity_name":"SLC16A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Allan-Herndon-Dudley syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AST","SD","ISSD","NSD","SIALIN","SLD"],"biotype":"protein_coding","hgnc_id":"HGNC:10933","gene_name":"solute carrier family 17 member 5","omim_gene":["604322"],"alias_name":null,"gene_symbol":"SLC17A5","hgnc_symbol":"SLC17A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74303102-74363878","ensembl_id":"ENSG00000119899"}},"GRch38":{"90":{"location":"6:73593379-73654155","ensembl_id":"ENSG00000119899"}}},"hgnc_date_symbol_changed":"2000-01-06"},"entity_type":"gene","entity_name":"SLC17A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Sialic acid storage disorder, infantile"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THTR1"],"biotype":"protein_coding","hgnc_id":"HGNC:10938","gene_name":"solute carrier family 19 member 2","omim_gene":["603941"],"alias_name":null,"gene_symbol":"SLC19A2","hgnc_symbol":"SLC19A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:169433147-169455241","ensembl_id":"ENSG00000117479"}},"GRch38":{"90":{"location":"1:169463909-169486003","ensembl_id":"ENSG00000117479"}}},"hgnc_date_symbol_changed":"1999-04-09"},"entity_type":"gene","entity_name":"SLC19A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Thiamine-responsive megaloblastic anemia syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THTR2"],"biotype":"protein_coding","hgnc_id":"HGNC:16266","gene_name":"solute carrier family 19 member 3","omim_gene":["606152"],"alias_name":["thiamine transporter 2"],"gene_symbol":"SLC19A3","hgnc_symbol":"SLC19A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:228549926-228582728","ensembl_id":"ENSG00000135917"}},"GRch38":{"90":{"location":"2:227685210-227718012","ensembl_id":"ENSG00000135917"}}},"hgnc_date_symbol_changed":"2001-07-19"},"entity_type":"gene","entity_name":"SLC19A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Basal ganglia disease, biotin-responsive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OCTN2","SCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10969","gene_name":"solute carrier family 22 member 5","omim_gene":["603377"],"alias_name":null,"gene_symbol":"SLC22A5","hgnc_symbol":"SLC22A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131705444-131731306","ensembl_id":"ENSG00000197375"}},"GRch38":{"90":{"location":"5:132369752-132395614","ensembl_id":"ENSG00000197375"}}},"hgnc_date_symbol_changed":"1998-07-16"},"entity_type":"gene","entity_name":"SLC22A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Carnitine deficiency, systemic primary"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CITRIN","ARALAR2"],"biotype":"protein_coding","hgnc_id":"HGNC:10983","gene_name":"solute carrier family 25 member 13","omim_gene":["603859"],"alias_name":["mitochondrial aspartate glutamate carrier 2"],"gene_symbol":"SLC25A13","hgnc_symbol":"SLC25A13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:95749532-95951459","ensembl_id":"ENSG00000004864"}},"GRch38":{"90":{"location":"7:96120220-96322147","ensembl_id":"ENSG00000004864"}}},"hgnc_date_symbol_changed":"1999-07-13"},"entity_type":"gene","entity_name":"SLC25A13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Citrullinemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ORC1","D13S327"],"biotype":"protein_coding","hgnc_id":"HGNC:10985","gene_name":"solute carrier family 25 member 15","omim_gene":["603861"],"alias_name":["ornithine transporter 1"],"gene_symbol":"SLC25A15","hgnc_symbol":"SLC25A15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:41363548-41384247","ensembl_id":"ENSG00000102743"}},"GRch38":{"90":{"location":"13:40789412-40810111","ensembl_id":"ENSG00000102743"}}},"hgnc_date_symbol_changed":"1999-06-28"},"entity_type":"gene","entity_name":"SLC25A15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAC"],"biotype":"protein_coding","hgnc_id":"HGNC:1421","gene_name":"solute carrier family 25 member 20","omim_gene":["613698"],"alias_name":["carnitine-acylcarnitine carrier","carnitine/acylcarnitine translocase"],"gene_symbol":"SLC25A20","hgnc_symbol":"SLC25A20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48894369-48936426","ensembl_id":"ENSG00000178537"}},"GRch38":{"90":{"location":"3:48856931-48898993","ensembl_id":"ENSG00000178537"}}},"hgnc_date_symbol_changed":"1997-08-18"},"entity_type":"gene","entity_name":"SLC25A20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Carnitine-acylcarnitine translocase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20551"],"biotype":"protein_coding","hgnc_id":"HGNC:26054","gene_name":"solute carrier family 25 member 38","omim_gene":["610819"],"alias_name":null,"gene_symbol":"SLC25A38","hgnc_symbol":"SLC25A38","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:39424839-39438842","ensembl_id":"ENSG00000144659"}},"GRch38":{"90":{"location":"3:39383348-39397351","ensembl_id":"ENSG00000144659"}}},"hgnc_date_symbol_changed":"2006-09-21"},"entity_type":"gene","entity_name":"SLC25A38","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["T1"],"biotype":"protein_coding","hgnc_id":"HGNC:10990","gene_name":"solute carrier family 25 member 4","omim_gene":["103220"],"alias_name":null,"gene_symbol":"SLC25A4","hgnc_symbol":"SLC25A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:186064395-186071536","ensembl_id":"ENSG00000151729"}},"GRch38":{"90":{"location":"4:185143241-185150382","ensembl_id":"ENSG00000151729"}}},"hgnc_date_symbol_changed":"1989-05-19"},"entity_type":"gene","entity_name":"SLC25A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Progressive external ophthalmoplegia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DTDST"],"biotype":"protein_coding","hgnc_id":"HGNC:10994","gene_name":"solute carrier family 26 member 2","omim_gene":["606718"],"alias_name":null,"gene_symbol":"SLC26A2","hgnc_symbol":"SLC26A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149340300-149373018","ensembl_id":"ENSG00000155850"}},"GRch38":{"90":{"location":"5:149960737-149993455","ensembl_id":"ENSG00000155850"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"SLC26A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Achondrogenesis 1B"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3018","gene_name":"solute carrier family 26 member 3","omim_gene":["126650"],"alias_name":null,"gene_symbol":"SLC26A3","hgnc_symbol":"SLC26A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107405912-107443670","ensembl_id":"ENSG00000091138"}},"GRch38":{"90":{"location":"7:107765467-107803225","ensembl_id":"ENSG00000091138"}}},"hgnc_date_symbol_changed":"1993-04-01"},"entity_type":"gene","entity_name":"SLC26A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Chloride diarrhea, congenital, Finnish type"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDS"],"biotype":"protein_coding","hgnc_id":"HGNC:8818","gene_name":"solute carrier family 26 member 4","omim_gene":["605646"],"alias_name":["pendrin"],"gene_symbol":"SLC26A4","hgnc_symbol":"SLC26A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107301080-107358254","ensembl_id":"ENSG00000091137"}},"GRch38":{"90":{"location":"7:107660635-107717809","ensembl_id":"ENSG00000091137"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"SLC26A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Pendred syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FATP4","ACSVL4"],"biotype":"protein_coding","hgnc_id":"HGNC:10998","gene_name":"solute carrier family 27 member 4","omim_gene":["604194"],"alias_name":null,"gene_symbol":"SLC27A4","hgnc_symbol":"SLC27A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131102925-131123749","ensembl_id":"ENSG00000167114"}},"GRch38":{"90":{"location":"9:128340646-128361470","ensembl_id":"ENSG00000167114"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ichthyosis prematurity syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DYT18","DYT9"],"biotype":"protein_coding","hgnc_id":"HGNC:11005","gene_name":"solute carrier family 2 member 1","omim_gene":["138140"],"alias_name":null,"gene_symbol":"SLC2A1","hgnc_symbol":"SLC2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43391052-43424530","ensembl_id":"ENSG00000117394"}},"GRch38":{"90":{"location":"1:42925375-42959173","ensembl_id":"ENSG00000117394"}}},"hgnc_date_symbol_changed":"1994-11-18"},"entity_type":"gene","entity_name":"SLC2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["GLUT1 deficiency syndrome 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GLUT10"],"biotype":"protein_coding","hgnc_id":"HGNC:13444","gene_name":"solute carrier family 2 member 10","omim_gene":["606145"],"alias_name":null,"gene_symbol":"SLC2A10","hgnc_symbol":"SLC2A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:45338126-45364965","ensembl_id":"ENSG00000197496"}},"GRch38":{"90":{"location":"20:46709487-46736347","ensembl_id":"ENSG00000197496"}}},"hgnc_date_symbol_changed":"2001-04-02"},"entity_type":"gene","entity_name":"SLC2A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Arterial tortuosity syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NAPI-3B"],"biotype":"protein_coding","hgnc_id":"HGNC:11020","gene_name":"solute carrier family 34 member 2","omim_gene":["604217"],"alias_name":null,"gene_symbol":"SLC34A2","hgnc_symbol":"SLC34A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:25656923-25680370","ensembl_id":"ENSG00000157765"}},"GRch38":{"90":{"location":"4:25655301-25678748","ensembl_id":"ENSG00000157765"}}},"hgnc_date_symbol_changed":"1999-07-19"},"entity_type":"gene","entity_name":"SLC34A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Pulmonary alveolar microlithiasis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NPTIIc","FLJ38680"],"biotype":"protein_coding","hgnc_id":"HGNC:20305","gene_name":"solute carrier family 34 member 3","omim_gene":["609826"],"alias_name":null,"gene_symbol":"SLC34A3","hgnc_symbol":"SLC34A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140125209-140131006","ensembl_id":"ENSG00000198569"}},"GRch38":{"90":{"location":"9:137230757-137236554","ensembl_id":"ENSG00000198569"}}},"hgnc_date_symbol_changed":"2003-08-08"},"entity_type":"gene","entity_name":"SLC34A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hypophosphatemic rickets with hypercalciuria"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UGTREL7","KIAA0260"],"biotype":"protein_coding","hgnc_id":"HGNC:20800","gene_name":"solute carrier family 35 member D1","omim_gene":["610804"],"alias_name":null,"gene_symbol":"SLC35D1","hgnc_symbol":"SLC35D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:67465015-67519782","ensembl_id":"ENSG00000116704"}},"GRch38":{"90":{"location":"1:66999332-67054099","ensembl_id":"ENSG00000116704"}}},"hgnc_date_symbol_changed":"2003-04-09"},"entity_type":"gene","entity_name":"SLC35D1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Schneckenbecken dysplasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GSD1b","GSD1c","GSD1d"],"biotype":"protein_coding","hgnc_id":"HGNC:4061","gene_name":"solute carrier family 37 member 4","omim_gene":["602671"],"alias_name":null,"gene_symbol":"SLC37A4","hgnc_symbol":"SLC37A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118894824-118901616","ensembl_id":"ENSG00000137700"}},"GRch38":{"90":{"location":"11:119024114-119030906","ensembl_id":"ENSG00000137700"}}},"hgnc_date_symbol_changed":"2003-09-10"},"entity_type":"gene","entity_name":"SLC37A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Glycogen storage disease Ib"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZIP4","AWMS2"],"biotype":"protein_coding","hgnc_id":"HGNC:17129","gene_name":"solute carrier family 39 member 4","omim_gene":["607059"],"alias_name":null,"gene_symbol":"SLC39A4","hgnc_symbol":"SLC39A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145635126-145642279","ensembl_id":"ENSG00000147804"}},"GRch38":{"90":{"location":"8:144409742-144416895","ensembl_id":"ENSG00000147804"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"SLC39A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Acrodermatitis enteropathica"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSNU1","D2H","RBAT","ATR1","NBAT"],"biotype":"protein_coding","hgnc_id":"HGNC:11025","gene_name":"solute carrier family 3 member 1","omim_gene":["104614"],"alias_name":null,"gene_symbol":"SLC3A1","hgnc_symbol":"SLC3A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44502599-44548633","ensembl_id":"ENSG00000138079"}},"GRch38":{"90":{"location":"2:44275458-44321494","ensembl_id":"ENSG00000138079"}}},"hgnc_date_symbol_changed":"1993-12-16"},"entity_type":"gene","entity_name":"SLC3A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cystinuria"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AIM-1","OCA4"],"biotype":"protein_coding","hgnc_id":"HGNC:16472","gene_name":"solute carrier family 45 member 2","omim_gene":["606202"],"alias_name":null,"gene_symbol":"SLC45A2","hgnc_symbol":"SLC45A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:33944721-33984835","ensembl_id":"ENSG00000164175"}},"GRch38":{"90":{"location":"5:33944616-33984730","ensembl_id":"ENSG00000164175"}}},"hgnc_date_symbol_changed":"2005-10-06"},"entity_type":"gene","entity_name":"SLC45A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Oculocutaneous albinism, type IV"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HCP1","MGC9564","PCFT"],"biotype":"protein_coding","hgnc_id":"HGNC:30521","gene_name":"solute carrier family 46 member 1","omim_gene":["611672"],"alias_name":["heme carrier protein 1","proton-coupled folate transporter"],"gene_symbol":"SLC46A1","hgnc_symbol":"SLC46A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26721661-26734215","ensembl_id":"ENSG00000076351"}},"GRch38":{"90":{"location":"17:28394756-28407197","ensembl_id":"ENSG00000076351"}}},"hgnc_date_symbol_changed":"2007-03-29"},"entity_type":"gene","entity_name":"SLC46A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Folate malabsorption, hereditary"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RTA1A","CD233","FR","SW","WR"],"biotype":"protein_coding","hgnc_id":"HGNC:11027","gene_name":"solute carrier family 4 member 1 (Diego blood group)","omim_gene":["109270"],"alias_name":["Froese blood group","Swann blood group","Wright blood group"],"gene_symbol":"SLC4A1","hgnc_symbol":"SLC4A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42325753-42345509","ensembl_id":"ENSG00000004939"}},"GRch38":{"90":{"location":"17:44248385-44268141","ensembl_id":"ENSG00000004939"}}},"hgnc_date_symbol_changed":"1988-04-20"},"entity_type":"gene","entity_name":"SLC4A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spherocytosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Corneal endothelial dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11037","gene_name":"solute carrier family 5 member 2","omim_gene":["182381"],"alias_name":null,"gene_symbol":"SLC5A2","hgnc_symbol":"SLC5A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31494323-31502181","ensembl_id":"ENSG00000140675"}},"GRch38":{"90":{"location":"16:31483002-31490860","ensembl_id":"ENSG00000140675"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"SLC5A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Renal glucosuria"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NIS"],"biotype":"protein_coding","hgnc_id":"HGNC:11040","gene_name":"solute carrier family 5 member 5","omim_gene":["601843"],"alias_name":null,"gene_symbol":"SLC5A5","hgnc_symbol":"SLC5A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17982782-18005983","ensembl_id":"ENSG00000105641"}},"GRch38":{"90":{"location":"19:17871973-17895174","ensembl_id":"ENSG00000105641"}}},"hgnc_date_symbol_changed":"1997-04-16"},"entity_type":"gene","entity_name":"SLC5A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Thyroid dyshormonogenesis 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GLYT2"],"biotype":"protein_coding","hgnc_id":"HGNC:11051","gene_name":"solute carrier family 6 member 5","omim_gene":["604159"],"alias_name":["glycine transporter 2"],"gene_symbol":"SLC6A5","hgnc_symbol":"SLC6A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:20620946-20680831","ensembl_id":"ENSG00000165970"}},"GRch38":{"90":{"location":"11:20599400-20659285","ensembl_id":"ENSG00000165970"}}},"hgnc_date_symbol_changed":"1997-12-05"},"entity_type":"gene","entity_name":"SLC6A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hyperekplexia 3"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CRTR","CT1"],"biotype":"protein_coding","hgnc_id":"HGNC:11055","gene_name":"solute carrier family 6 member 8","omim_gene":["300036"],"alias_name":["creatine transporter"],"gene_symbol":"SLC6A8","hgnc_symbol":"SLC6A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152953554-152962048","ensembl_id":"ENSG00000130821"}},"GRch38":{"90":{"location":"X:153688099-153696593","ensembl_id":"ENSG00000130821"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"SLC6A8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Creatine deficiency syndrome, X-linked"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["y+LAT-1"],"biotype":"protein_coding","hgnc_id":"HGNC:11065","gene_name":"solute carrier family 7 member 7","omim_gene":["603593"],"alias_name":null,"gene_symbol":"SLC7A7","hgnc_symbol":"SLC7A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23242431-23299029","ensembl_id":"ENSG00000155465"}},"GRch38":{"90":{"location":"14:22773222-22829820","ensembl_id":"ENSG00000155465"}}},"hgnc_date_symbol_changed":"1999-01-28"},"entity_type":"gene","entity_name":"SLC7A7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Lysinuric protein intolerance"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11067","gene_name":"solute carrier family 7 member 9","omim_gene":["604144"],"alias_name":null,"gene_symbol":"SLC7A9","hgnc_symbol":"SLC7A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33321415-33360672","ensembl_id":"ENSG00000021488"}},"GRch38":{"90":{"location":"19:32830509-32869766","ensembl_id":"ENSG00000021488"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"SLC7A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cystinuria"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NHE6","KIAA0267"],"biotype":"protein_coding","hgnc_id":"HGNC:11079","gene_name":"solute carrier family 9 member A6","omim_gene":["300231"],"alias_name":null,"gene_symbol":"SLC9A6","hgnc_symbol":"SLC9A6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135067598-135129423","ensembl_id":"ENSG00000198689"}},"GRch38":{"90":{"location":"X:135973841-136047269","ensembl_id":"ENSG00000198689"}}},"hgnc_date_symbol_changed":"1999-07-30"},"entity_type":"gene","entity_name":"SLC9A6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Christianson syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PGT","OATP2A1"],"biotype":"protein_coding","hgnc_id":"HGNC:10955","gene_name":"solute carrier organic anion transporter family member 2A1","omim_gene":["601460"],"alias_name":null,"gene_symbol":"SLCO2A1","hgnc_symbol":"SLCO2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:133651540-133771028","ensembl_id":"ENSG00000174640"}},"GRch38":{"90":{"location":"3:133932696-134052184","ensembl_id":"ENSG00000174640"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"SLCO2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23509104","27134495","33852188","22331663","27134495"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100","Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JV15-2","HsT17436"],"biotype":"protein_coding","hgnc_id":"HGNC:6769","gene_name":"SMAD family member 3","omim_gene":["603109"],"alias_name":null,"gene_symbol":"SMAD3","hgnc_symbol":"SMAD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:67356101-67487533","ensembl_id":"ENSG00000166949"}},"GRch38":{"90":{"location":"15:67063763-67195195","ensembl_id":"ENSG00000166949"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Loeys-Dietz syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DPC4"],"biotype":"protein_coding","hgnc_id":"HGNC:6770","gene_name":"SMAD family member 4","omim_gene":["600993"],"alias_name":null,"gene_symbol":"SMAD4","hgnc_symbol":"SMAD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:48494410-48611415","ensembl_id":"ENSG00000141646"}},"GRch38":{"90":{"location":"18:51028394-51085045","ensembl_id":"ENSG00000141646"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Juvenile polyposis syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HHARP","HARP"],"biotype":"protein_coding","hgnc_id":"HGNC:11102","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1","omim_gene":["606622"],"alias_name":["HepA-related protein","ATP-driven annealing helicase"],"gene_symbol":"SMARCAL1","hgnc_symbol":"SMARCAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:217277137-217347776","ensembl_id":"ENSG00000138375"}},"GRch38":{"90":{"location":"2:216412414-216483053","ensembl_id":"ENSG00000138375"}}},"hgnc_date_symbol_changed":"2000-02-18"},"entity_type":"gene","entity_name":"SMARCAL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Schimke immunoosseous dysplasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS423E","KIAA0178","SB1.8","Smcb"],"biotype":"protein_coding","hgnc_id":"HGNC:11111","gene_name":"structural maintenance of chromosomes 1A","omim_gene":["300040"],"alias_name":null,"gene_symbol":"SMC1A","hgnc_symbol":"SMC1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53401070-53449677","ensembl_id":"ENSG00000072501"}},"GRch38":{"90":{"location":"X:53374149-53422728","ensembl_id":"ENSG00000072501"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Cornelia de Lange syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BCD541","SMNT","SMA1","SMA2","SMA3","GEMIN1","TDRD16A"],"biotype":"protein_coding","hgnc_id":"HGNC:11117","gene_name":"survival of motor neuron 1, telomeric","omim_gene":["600354"],"alias_name":["gemin-1","tudor domain containing 16A"],"gene_symbol":"SMN1","hgnc_symbol":"SMN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70220768-70249769","ensembl_id":"ENSG00000172062"}},"GRch38":{"90":{"location":"5:70925030-70953942","ensembl_id":"ENSG00000172062"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"SMN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spinal muscular atrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASM"],"biotype":"protein_coding","hgnc_id":"HGNC:11120","gene_name":"sphingomyelin phosphodiesterase 1","omim_gene":["607608"],"alias_name":["acid sphingomyelinase"],"gene_symbol":"SMPD1","hgnc_symbol":"SMPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6411655-6416228","ensembl_id":"ENSG00000166311"}},"GRch38":{"90":{"location":"11:6390431-6394998","ensembl_id":"ENSG00000166311"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SMPD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Niemann-Pick disease, type A","Niemann-Pick disease, type B"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DFNX4"],"biotype":"protein_coding","hgnc_id":"HGNC:11122","gene_name":"small muscle protein, X-linked","omim_gene":["300226"],"alias_name":null,"gene_symbol":"SMPX","hgnc_symbol":"SMPX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:21724090-21776281","ensembl_id":"ENSG00000091482"}},"GRch38":{"90":{"location":"X:21705972-21758163","ensembl_id":"ENSG00000091482"}}},"hgnc_date_symbol_changed":"1999-03-18"},"entity_type":"gene","entity_name":"SMPX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, X-linked"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DOM","WS4","WS2E"],"biotype":"protein_coding","hgnc_id":"HGNC:11190","gene_name":"SRY-box 10","omim_gene":["602229"],"alias_name":["dominant megacolon, mouse, human homolog of"],"gene_symbol":"SOX10","hgnc_symbol":"SOX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38366693-38383429","ensembl_id":"ENSG00000100146"}},"GRch38":{"90":{"location":"22:37970686-37987422","ensembl_id":"ENSG00000100146"}}},"hgnc_date_symbol_changed":"1998-01-22"},"entity_type":"gene","entity_name":"SOX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Shah-Waardenburg syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SRA1"],"biotype":"protein_coding","hgnc_id":"HGNC:11204","gene_name":"SRY-box 9","omim_gene":["608160"],"alias_name":null,"gene_symbol":"SOX9","hgnc_symbol":"SOX9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:70117161-70122561","ensembl_id":"ENSG00000125398"}},"GRch38":{"90":{"location":"17:72121020-72126420","ensembl_id":"ENSG00000125398"}}},"hgnc_date_symbol_changed":"1992-09-25"},"entity_type":"gene","entity_name":"SOX9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Campomelic dysplasia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5401","gene_name":"SP110 nuclear body protein","omim_gene":["604457"],"alias_name":null,"gene_symbol":"SP110","hgnc_symbol":"SP110","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:231032009-231090444","ensembl_id":"ENSG00000135899"}},"GRch38":{"90":{"location":"2:230167293-230225729","ensembl_id":"ENSG00000135899"}}},"hgnc_date_symbol_changed":"2001-12-20"},"entity_type":"gene","entity_name":"SP110","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hepatic venoocclusive disease with immunodeficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VAKTI","LEKTI","LETKI","NETS","NS","FLJ21544","FLJ97536","FLJ97596","FLJ99794","DKFZp686K19184"],"biotype":"protein_coding","hgnc_id":"HGNC:15464","gene_name":"serine peptidase inhibitor, Kazal type 5","omim_gene":["605010"],"alias_name":["lymphoepithelial Kazal-type-related inhibitor"],"gene_symbol":"SPINK5","hgnc_symbol":"SPINK5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:147405246-147516852","ensembl_id":"ENSG00000133710"}},"GRch38":{"90":{"location":"5:148025683-148137289","ensembl_id":"ENSG00000133710"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"SPINK5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Netherton syndrome 1","Netherton syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SDR38C1"],"biotype":"protein_coding","hgnc_id":"HGNC:11257","gene_name":"sepiapterin reductase","omim_gene":["182125"],"alias_name":["short chain dehydrogenase/reductase family 38C, member 1","Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"],"gene_symbol":"SPR","hgnc_symbol":"SPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73114489-73119287","ensembl_id":"ENSG00000116096"}},"GRch38":{"90":{"location":"2:72887360-72892158","ensembl_id":"ENSG00000116096"}}},"hgnc_date_symbol_changed":"1991-12-05"},"entity_type":"gene","entity_name":"SPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Sepiapterin reductase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ33903","PPP1R147"],"biotype":"protein_coding","hgnc_id":"HGNC:20249","gene_name":"sprouty related EVH1 domain containing 1","omim_gene":["609291"],"alias_name":["protein phosphatase 1, regulatory subunit 147"],"gene_symbol":"SPRED1","hgnc_symbol":"SPRED1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:38544527-38649450","ensembl_id":"ENSG00000166068"}},"GRch38":{"90":{"location":"15:38252326-38357249","ensembl_id":"ENSG00000166068"}}},"hgnc_date_symbol_changed":"2003-01-24"},"entity_type":"gene","entity_name":"SPRED1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Legius syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EL2"],"biotype":"protein_coding","hgnc_id":"HGNC:11272","gene_name":"spectrin alpha, erythrocytic 1","omim_gene":["182860"],"alias_name":["elliptocytosis 2"],"gene_symbol":"SPTA1","hgnc_symbol":"SPTA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:158580496-158656488","ensembl_id":"ENSG00000163554"}},"GRch38":{"90":{"location":"1:158610706-158686698","ensembl_id":"ENSG00000163554"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Elliptocytosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11274","gene_name":"spectrin beta, erythrocytic","omim_gene":["182870"],"alias_name":["spherocytosis, clinical type I"],"gene_symbol":"SPTB","hgnc_symbol":"SPTB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:65213002-65346601","ensembl_id":"ENSG00000070182"}},"GRch38":{"90":{"location":"14:64746283-64879883","ensembl_id":"ENSG00000070182"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spherocytosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LCB1","SPTI","HSAN1","hLCB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11277","gene_name":"serine palmitoyltransferase long chain base subunit 1","omim_gene":["605712"],"alias_name":null,"gene_symbol":"SPTLC1","hgnc_symbol":"SPTLC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94794281-94877666","ensembl_id":"ENSG00000090054"}},"GRch38":{"90":{"location":"9:92031999-92115384","ensembl_id":"ENSG00000090054"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"SPTLC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IA"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0309","EAF1","SWR1","DOMO1"],"biotype":"protein_coding","hgnc_id":"HGNC:16974","gene_name":"Snf2 related CREBBP activator protein","omim_gene":["611421"],"alias_name":["Swi2/Snf2-related ATPase homolog (S. cerevisiae)","domino homolog 1 (Drosophila)"],"gene_symbol":"SRCAP","hgnc_symbol":"SRCAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30709530-30755602","ensembl_id":"ENSG00000080603"}},"GRch38":{"90":{"location":"16:30698209-30741409","ensembl_id":"ENSG00000080603"}}},"hgnc_date_symbol_changed":"2007-11-29"},"entity_type":"gene","entity_name":"SRCAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Floating-Harbor syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["StAR","STARD1"],"biotype":"protein_coding","hgnc_id":"HGNC:11359","gene_name":"steroidogenic acute regulatory protein","omim_gene":["600617"],"alias_name":["StAR related lipid transfer (START) domain containing 1"],"gene_symbol":"STAR","hgnc_symbol":"STAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38001167-38008783","ensembl_id":"ENSG00000147465"}},"GRch38":{"90":{"location":"8:38143649-38151265","ensembl_id":"ENSG00000147465"}}},"hgnc_date_symbol_changed":"1996-04-24"},"entity_type":"gene","entity_name":"STAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Congenital lipoid adrenal hyperplasia,"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["APRF"],"biotype":"protein_coding","hgnc_id":"HGNC:11364","gene_name":"signal transducer and activator of transcription 3","omim_gene":["102582"],"alias_name":null,"gene_symbol":"STAT3","hgnc_symbol":"STAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40465342-40540586","ensembl_id":"ENSG00000168610"}},"GRch38":{"90":{"location":"17:42313324-42388568","ensembl_id":"ENSG00000168610"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hyper-IgE recurrent infection syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PJS","LKB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11389","gene_name":"serine/threonine kinase 11","omim_gene":["602216"],"alias_name":["polarization-related protein LKB1"],"gene_symbol":"STK11","hgnc_symbol":"STK11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1189406-1228428","ensembl_id":"ENSG00000118046"}},"GRch38":{"90":{"location":"19:1177558-1228435","ensembl_id":"ENSG00000118046"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"STK11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Peutz-Jeghers syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12541"],"biotype":"protein_coding","hgnc_id":"HGNC:30650","gene_name":"stimulated by retinoic acid 6","omim_gene":["610745"],"alias_name":["retinol binding protein 4 receptor"],"gene_symbol":"STRA6","hgnc_symbol":"STRA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74471807-74504608","ensembl_id":"ENSG00000137868"}},"GRch38":{"90":{"location":"15:74179466-74212267","ensembl_id":"ENSG00000137868"}}},"hgnc_date_symbol_changed":"2004-12-20"},"entity_type":"gene","entity_name":"STRA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Microphthalmia, syndromic"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16035","gene_name":"stereocilin","omim_gene":["606440"],"alias_name":null,"gene_symbol":"STRC","hgnc_symbol":"STRC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43891596-44010458","ensembl_id":"ENSG00000242866"}},"GRch38":{"90":{"location":"15:43599398-43618800","ensembl_id":"ENSG00000242866"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"STRC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null}]}