Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=318
{ "count": 35518, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=319", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=317", "results": [ { "gene_data": { "alias": [ "CAV", "CAVA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1377", "gene_name": "carbonic anhydrase 5A", "omim_gene": [ "114761" ], "alias_name": null, "gene_symbol": "CA5A", "hgnc_symbol": "CA5A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:87921625-87970135", "ensembl_id": "ENSG00000174990" } }, "GRch38": { "90": { "location": "16:87881546-87936529", "ensembl_id": "ENSG00000174990" } } }, "hgnc_date_symbol_changed": "1993-10-15" }, "entity_type": "gene", "entity_name": "CA5A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24530203", "26913920", "23589845" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CTLN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:758", "gene_name": "argininosuccinate synthase 1", "omim_gene": [ "603470" ], "alias_name": null, "gene_symbol": "ASS1", "hgnc_symbol": "ASS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:133320316-133376661", "ensembl_id": "ENSG00000130707" } }, "GRch38": { "90": { "location": "9:130444929-130501274", "ensembl_id": "ENSG00000130707" } } }, "hgnc_date_symbol_changed": "2006-08-24" }, "entity_type": "gene", "entity_name": "ASS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19006241" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "citrullinemia type I MONDO:0008988" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ASRG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:318", "gene_name": "aspartylglucosaminidase", "omim_gene": [ "613228" ], "alias_name": [ "glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase" ], "gene_symbol": "AGA", "hgnc_symbol": "AGA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:178351924-178363657", "ensembl_id": "ENSG00000038002" } }, "GRch38": { "90": { "location": "4:177430770-177442503", "ensembl_id": "ENSG00000038002" } } }, "hgnc_date_symbol_changed": "1991-05-09" }, "entity_type": "gene", "entity_name": "AGA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8252036, 20301412" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Canavan disease MONDO:0010079" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:753", "gene_name": "asparagine synthetase (glutamine-hydrolyzing)", "omim_gene": [ "108370" ], "alias_name": null, "gene_symbol": "ASNS", "hgnc_symbol": "ASNS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:97481430-97501854", "ensembl_id": "ENSG00000070669" } }, "GRch38": { "90": { "location": "7:97852118-97872542", "ensembl_id": "ENSG00000070669" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ASNS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29375865", "25663424", "25227173", "29405484", "28776279", "30315573" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:746", "gene_name": "argininosuccinate lyase", "omim_gene": [ "608310" ], "alias_name": null, "gene_symbol": "ASL", "hgnc_symbol": "ASL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:65540785-65558545", "ensembl_id": "ENSG00000126522" } }, "GRch38": { "90": { "location": "7:66075798-66093558", "ensembl_id": "ENSG00000126522" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ASL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "2263616", "17326097", "19703900", "12559843", "22081021" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "argininosuccinic aciduria MONDO:0008815" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:663", "gene_name": "arginase 1", "omim_gene": [ "608313" ], "alias_name": null, "gene_symbol": "ARG1", "hgnc_symbol": "ARG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:131894284-131905472", "ensembl_id": "ENSG00000118520" } }, "GRch38": { "90": { "location": "6:131573144-131584332", "ensembl_id": "ENSG00000118520" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ARG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16747805", "23859858", "1463019", "1598908", "12052859", "23920045" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "hyperargininemia MONDO:0008814" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GCST", "NKH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:473", "gene_name": "aminomethyltransferase", "omim_gene": [ "238310" ], "alias_name": [ "glycine cleavage system protein T" ], "gene_symbol": "AMT", "hgnc_symbol": "AMT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49454211-49460186", "ensembl_id": "ENSG00000145020" } }, "GRch38": { "90": { "location": "3:49416775-49422753", "ensembl_id": "ENSG00000145020" } } }, "hgnc_date_symbol_changed": "1992-04-08" }, "entity_type": "gene", "entity_name": "AMT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27362913", "8005589", "25231368", "26179960", "26371980", "27164344", "6863283", "18941301" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "glycine encephalopathy MONDO:0011612" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EPD", "PDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:877", "gene_name": "aldehyde dehydrogenase 7 family member A1", "omim_gene": [ "107323" ], "alias_name": [ "antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase" ], "gene_symbol": "ALDH7A1", "hgnc_symbol": "ALDH7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:125877533-125931110", "ensembl_id": "ENSG00000164904" } }, "GRch38": { "90": { "location": "5:126531200-126595418", "ensembl_id": "ENSG00000164904" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "ALDH7A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19142996", "16491085", "22784480", "29053735" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "pyridoxine-dependent epilepsy MONDO:0009945" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P5CDh" ], "biotype": "protein_coding", "hgnc_id": "HGNC:406", "gene_name": "aldehyde dehydrogenase 4 family member A1", "omim_gene": [ "606811" ], "alias_name": null, "gene_symbol": "ALDH4A1", "hgnc_symbol": "ALDH4A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:19197926-19229275", "ensembl_id": "ENSG00000159423" } }, "GRch38": { "90": { "location": "1:18871430-18902781", "ensembl_id": "ENSG00000159423" } } }, "hgnc_date_symbol_changed": "1998-11-24" }, "entity_type": "gene", "entity_name": "ALDH4A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "2624476", "13835167", "4369405", "8621661" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "hyperprolinemia type 2 MONDO:0009401" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P5CS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9722", "gene_name": "aldehyde dehydrogenase 18 family member A1", "omim_gene": [ "138250" ], "alias_name": null, "gene_symbol": "ALDH18A1", "hgnc_symbol": "ALDH18A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:97365696-97416463", "ensembl_id": "ENSG00000059573" } }, "GRch38": { "90": { "location": "10:95605929-95656706", "ensembl_id": "ENSG00000059573" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "ALDH18A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32017139", "26026163", "26320891" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "P5CS deficiency MONDO:0100126" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. 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It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "cblA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18871", "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblA type", "omim_gene": [ "607481" ], "alias_name": null, "gene_symbol": "MMAA", "hgnc_symbol": "MMAA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:146539415-146581187", "ensembl_id": "ENSG00000151611" } }, "GRch38": { "90": { "location": "4:145618263-145660035", "ensembl_id": "ENSG00000151611" } } }, "hgnc_date_symbol_changed": "2003-02-11" }, "entity_type": "gene", "entity_name": "MMAA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29152456" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "methylmalonic aciduria, cblA type MONDO:0009613" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "cblB", "CFAP23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19331", "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblB type", "omim_gene": [ "607568" ], "alias_name": [ "ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23" ], "gene_symbol": "MMAB", "hgnc_symbol": "MMAB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:109991542-110011679", "ensembl_id": "ENSG00000139428" } }, "GRch38": { "90": { "location": "12:109553737-109573874", "ensembl_id": "ENSG00000139428" } } }, "hgnc_date_symbol_changed": "2003-02-11" }, "entity_type": "gene", "entity_name": "MMAB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29152456" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "methylmalonic aciduria, cblB type MONDO:0009614" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CL25022", "cblD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25221", "gene_name": "methylmalonic aciduria and homocystinuria, cblD type", "omim_gene": [ "611935" ], "alias_name": null, "gene_symbol": "MMADHC", "hgnc_symbol": "MMADHC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:150426148-150444330", "ensembl_id": "ENSG00000168288" } }, "GRch38": { "90": { "location": "2:149569634-149587816", "ensembl_id": "ENSG00000168288" } } }, "hgnc_date_symbol_changed": "2009-01-08" }, "entity_type": "gene", "entity_name": "MMADHC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29152456", "27604308", "18385497" ], "evidence": [ "Expert Review Green", "Literature", "NHS GMS" ], "phenotypes": [ "methylmalonic aciduria and homocystinuria type cblD MONDO:0010185" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:16902", "gene_name": "branched chain ketoacid dehydrogenase kinase", "omim_gene": [ "614901" ], "alias_name": null, "gene_symbol": "BCKDK", "hgnc_symbol": "BCKDK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:31117428-31124110", "ensembl_id": "ENSG00000103507" } }, "GRch38": { "90": { "location": "16:31106107-31112791", "ensembl_id": "ENSG00000103507" } } }, "hgnc_date_symbol_changed": "2005-01-20" }, "entity_type": "gene", "entity_name": "BCKDK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22956686", "24449431" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BCAM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:977", "gene_name": "branched chain amino acid transaminase 2", "omim_gene": [ "113530" ], "alias_name": null, "gene_symbol": "BCAT2", "hgnc_symbol": "BCAT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49298319-49314286", "ensembl_id": "ENSG00000105552" } }, "GRch38": { "90": { "location": "19:48795062-48811029", "ensembl_id": "ENSG00000105552" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "BCAT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14755340", "25653144", "31177572" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DLDH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2898", "gene_name": "dihydrolipoamide dehydrogenase", "omim_gene": [ "238331" ], "alias_name": [ "E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex" ], "gene_symbol": "DLD", "hgnc_symbol": "DLD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:107531415-107572175", "ensembl_id": "ENSG00000091140" } }, "GRch38": { "90": { "location": "7:107890970-107931730", "ensembl_id": "ENSG00000091140" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "DLD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "3769994", "8506365", "9934985", "17404228", "21558426", "21930696" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "pyruvate dehydrogenase E3 deficiency MONDO:0009529" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3929, "hash_id": null, "name": "Aminoacidopathy", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.", "status": "public", "version": "1.143", "version_created": "2026-04-01T10:30:06.755640+11:00", "relevant_disorders": [ "Abnormality of amino acid metabolism", "HP:0004337" ], "stats": { "number_of_genes": 134, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FAD", "S182", "PS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9508", "gene_name": "presenilin 1", "omim_gene": [ "104311" ], "alias_name": null, "gene_symbol": "PSEN1", "hgnc_symbol": "PSEN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:73603126-73690399", "ensembl_id": "ENSG00000080815" } }, "GRch38": { "90": { "location": "14:73136418-73223691", "ensembl_id": "ENSG00000080815" } } }, "hgnc_date_symbol_changed": "1992-11-05" }, "entity_type": "gene", "entity_name": "PSEN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "BabySeq Category C gene", "Expert Review Red" ], "phenotypes": [ "Alzheimer disease, type 3" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IFCR", "gp280" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2548", "gene_name": "cubilin", "omim_gene": [ "602997" ], "alias_name": [ "intrinsic factor-cobalamin receptor" ], "gene_symbol": "CUBN", "hgnc_symbol": "CUBN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:16865963-17171830", "ensembl_id": "ENSG00000107611" } }, "GRch38": { "90": { "location": "10:16823964-17129831", "ensembl_id": "ENSG00000107611" } } }, "hgnc_date_symbol_changed": "1998-11-02" }, "entity_type": "gene", "entity_name": "CUBN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Megaloblastic anaemia-1, Finnish type, MIM#261100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "haematological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dJ20C7.5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21024", "gene_name": "cullin 7", "omim_gene": [ "609577" ], "alias_name": null, "gene_symbol": "CUL7", "hgnc_symbol": "CUL7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:43005355-43021683", "ensembl_id": "ENSG00000044090" } }, "GRch38": { "90": { "location": "6:43037617-43053945", "ensembl_id": "ENSG00000044090" } } }, "hgnc_date_symbol_changed": "2004-03-22" }, "entity_type": "gene", "entity_name": "CUL7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BabySeq Category A gene" ], "phenotypes": [ "3-M syndrome 1, MIM# 273750" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LESTR", "NPY3R", "HM89", "NPYY3R", "D2S201E", "fusin", "HSY3RR", "NPYR", "CD184" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2561", "gene_name": "C-X-C motif chemokine receptor 4", "omim_gene": [ "162643" ], "alias_name": null, "gene_symbol": "CXCR4", "hgnc_symbol": "CXCR4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:136871919-136875735", "ensembl_id": "ENSG00000121966" } }, "GRch38": { "90": { "location": "2:136114349-136118165", "ensembl_id": "ENSG00000121966" } } }, "hgnc_date_symbol_changed": "1998-09-17" }, "entity_type": "gene", "entity_name": "CXCR4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BeginNGS" ], "phenotypes": [ "WHIM syndrome 1, MIM#\t193670" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "treatable", "immunological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p22-PHOX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2577", "gene_name": "cytochrome b-245 alpha chain", "omim_gene": [ "608508" ], "alias_name": [ "flavocytochrome b-558 alpha polypeptide" ], "gene_symbol": "CYBA", "hgnc_symbol": "CYBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88709691-88717560", "ensembl_id": "ENSG00000051523" } }, "GRch38": { "90": { "location": "16:88643283-88651152", "ensembl_id": "ENSG00000051523" } } }, "hgnc_date_symbol_changed": "1990-01-15" }, "entity_type": "gene", "entity_name": "CYBA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Chronic granulomatous disease, MIM#233690" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "immunological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GP91-PHOX", "NOX2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2578", "gene_name": "cytochrome b-245 beta chain", "omim_gene": [ "300481" ], "alias_name": [ "NADPH oxidase 2" ], "gene_symbol": "CYBB", "hgnc_symbol": "CYBB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:37639264-37672714", "ensembl_id": "ENSG00000165168" } }, "GRch38": { "90": { "location": "X:37780011-37813461", "ensembl_id": "ENSG00000165168" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CYBB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Chronic granulomatous disease, MIM#306400" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "treatable", "immunological" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P450SCC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2590", "gene_name": "cytochrome P450 family 11 subfamily A member 1", "omim_gene": [ "118485" ], "alias_name": [ "cholesterol monooxygenase (side-chain-cleaving)" ], "gene_symbol": "CYP11A1", "hgnc_symbol": "CYP11A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:74630100-74660081", "ensembl_id": "ENSG00000140459" } }, "GRch38": { "90": { "location": "15:74337759-74367740", "ensembl_id": "ENSG00000140459" } } }, "hgnc_date_symbol_changed": "2003-01-17" }, "entity_type": "gene", "entity_name": "CYP11A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "endocrine" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "P450C11", "FHI", "CPN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2591", "gene_name": "cytochrome P450 family 11 subfamily B member 1", "omim_gene": [ "610613" ], "alias_name": [ "steroid 11-beta-monooxygenase" ], "gene_symbol": "CYP11B1", "hgnc_symbol": "CYP11B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:143953772-143961262", "ensembl_id": "ENSG00000160882" } }, "GRch38": { "90": { "location": "8:142872356-142879846", "ensembl_id": "ENSG00000160882" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CYP11B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27928728" ], "evidence": [ "Expert Review Green", "BabySeq Category A gene", "BeginNGS" ], "phenotypes": [ "Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "endocrine" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CYP11BL", "CPN2", "P-450C18", "P450aldo", "ALDOS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2592", "gene_name": "cytochrome P450 family 11 subfamily B member 2", "omim_gene": [ "124080" ], "alias_name": [ "steroid 11-beta-monooxygenase" ], "gene_symbol": "CYP11B2", "hgnc_symbol": "CYP11B2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:143991975-143999259", "ensembl_id": "ENSG00000179142" } }, "GRch38": { "90": { "location": "8:142910559-142917843", "ensembl_id": "ENSG00000179142" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CYP11B2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "BeginNGS" ], "phenotypes": [ "Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#\t203400", "Hypoaldosteronism, congenital, due to CMO II deficiency, MIM#\t610600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable", "endocrine" ], "panel": { "id": 3931, "hash_id": null, "name": "Genomic newborn screening: BabyScreen+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)", "status": "public", "version": "1.148", "version_created": "2026-03-31T15:17:11.094244+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1723, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null } ] }