Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=312
{ "count": 35518, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=313", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=311", "results": [ { "gene_data": { "alias": [ "SHAPY", "SCAN-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19721", "gene_name": "calcium activated nucleotidase 1", "omim_gene": [ "613165" ], "alias_name": [ "Soluble Ca-Activated Nucleotidase, isozyme 1" ], "gene_symbol": "CANT1", "hgnc_symbol": "CANT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:76987799-77005949", "ensembl_id": "ENSG00000171302" } }, "GRch38": { "90": { "location": "17:78991717-79009867", "ensembl_id": "ENSG00000171302" } } }, "hgnc_date_symbol_changed": "2004-10-15" }, "entity_type": "gene", "entity_name": "CANT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19853239", "21037275", "28742282" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Desbuquois dysplasia 1, MIM# 251450", "Epiphyseal dysplasia, multiple, 7, MIM# 617719" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CANP3", "p94", "nCL-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1480", "gene_name": "calpain 3", "omim_gene": [ "114240" ], "alias_name": null, "gene_symbol": "CAPN3", "hgnc_symbol": "CAPN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:42640301-42704516", "ensembl_id": "ENSG00000092529" } }, "GRch38": { "90": { "location": "15:42359500-42412318", "ensembl_id": "ENSG00000092529" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "CAPN3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31937337", "28881388", "32342993" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 2A, 253600 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CARMA1", "BIMP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16393", "gene_name": "caspase recruitment domain family member 11", "omim_gene": [ "607210" ], "alias_name": [ "card-maguk protein 1", "bcl10-interacting maguk protein 3" ], "gene_symbol": "CARD11", "hgnc_symbol": "CARD11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:2945775-3083579", "ensembl_id": "ENSG00000198286" } }, "GRch38": { "90": { "location": "7:2906141-3043945", "ensembl_id": "ENSG00000198286" } } }, "hgnc_date_symbol_changed": "2001-08-13" }, "entity_type": "gene", "entity_name": "CARD11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 36729250", "23561803", "23374270", "28826773" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency 11, 615206 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:16391", "gene_name": "caspase recruitment domain family member 9", "omim_gene": [ "607212" ], "alias_name": null, "gene_symbol": "CARD9", "hgnc_symbol": "CARD9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139256355-139268133", "ensembl_id": "ENSG00000187796" } }, "GRch38": { "90": { "location": "9:136361903-136373681", "ensembl_id": "ENSG00000187796" } } }, "hgnc_date_symbol_changed": "2001-08-13" }, "entity_type": "gene", "entity_name": "CARD9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30136218" ], "evidence": [ "Expert Review Red", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12118" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25695", "gene_name": "cysteinyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "612800" ], "alias_name": [ "cysteine tRNA ligase 2, mitochondrial (putative)" ], "gene_symbol": "CARS2", "hgnc_symbol": "CARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:111293759-111365950", "ensembl_id": "ENSG00000134905" } }, "GRch38": { "90": { "location": "13:110641412-110713603", "ensembl_id": "ENSG00000134905" } } }, "hgnc_date_symbol_changed": "2007-01-24" }, "entity_type": "gene", "entity_name": "CARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30139652", "34704010" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LIN2", "CAGH39", "FGS4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1497", "gene_name": "calcium/calmodulin dependent serine protein kinase", "omim_gene": [ "300172" ], "alias_name": null, "gene_symbol": "CASK", "hgnc_symbol": "CASK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:41374187-41782716", "ensembl_id": "ENSG00000147044" } }, "GRch38": { "90": { "location": "X:41514934-41923463", "ensembl_id": "ENSG00000147044" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "CASK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21954287", "12522552", "19377476", "20029458", "28139025", "28944139" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "X-linked syndromic intellectual disability MONDO:0020119" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PDIB2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1513", "gene_name": "calsequestrin 2", "omim_gene": [ "114251" ], "alias_name": null, "gene_symbol": "CASQ2", "hgnc_symbol": "CASQ2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:116242628-116311402", "ensembl_id": "ENSG00000118729" } }, "GRch38": { "90": { "location": "1:115700007-115768781", "ensembl_id": "ENSG00000118729" } } }, "hgnc_date_symbol_changed": "1992-11-05" }, "entity_type": "gene", "entity_name": "CASQ2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34012068" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FHH", "NSHPT", "GPRC2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1514", "gene_name": "calcium sensing receptor", "omim_gene": [ "601199" ], "alias_name": [ "severe neonatal hyperparathyroidism" ], "gene_symbol": "CASR", "hgnc_symbol": "CASR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:121902530-122005342", "ensembl_id": "ENSG00000036828" } }, "GRch38": { "90": { "location": "3:122183683-122291629", "ensembl_id": "ENSG00000036828" } } }, "hgnc_date_symbol_changed": "1992-12-04" }, "entity_type": "gene", "entity_name": "CASR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22620673", "26646938" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hyperparathyroidism, neonatal MIM#239200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "cavin-1", "CGL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9688", "gene_name": "caveolae associated protein 1", "omim_gene": [ "603198" ], "alias_name": [ "congenital generalized lipodystrophy 4" ], "gene_symbol": "CAVIN1", "hgnc_symbol": "CAVIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40554470-40575535", "ensembl_id": "ENSG00000177469" } }, "GRch38": { "90": { "location": "17:42402452-42423517", "ensembl_id": "ENSG00000177469" } } }, "hgnc_date_symbol_changed": "2017-03-24" }, "entity_type": "gene", "entity_name": "CAVIN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19726876", "20300641", "20684003", "18840361" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lipodystrophy, congenital generalized, type 4, MIM# 613327", "MONDO:0013225" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20241", "MRT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30237", "gene_name": "coiled-coil and C2 domain containing 1A", "omim_gene": [ "610055" ], "alias_name": [ "mental retardation, nonsyndromic, autosomal recessive, 3" ], "gene_symbol": "CC2D1A", "hgnc_symbol": "CC2D1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:14017014-14041692", "ensembl_id": "ENSG00000132024" } }, "GRch38": { "90": { "location": "19:13906201-13930879", "ensembl_id": "ENSG00000132024" } } }, "hgnc_date_symbol_changed": "2005-07-05" }, "entity_type": "gene", "entity_name": "CC2D1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25066123" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Intellectual developmental disorder, autosomal recessive 3, MIM# 608443" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1345", "MKS6", "JBTS9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29253", "gene_name": "coiled-coil and C2 domain containing 2A", "omim_gene": [ "612013" ], "alias_name": [ "Meckel syndrome, type 6" ], "gene_symbol": "CC2D2A", "hgnc_symbol": "CC2D2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:15471489-15603180", "ensembl_id": "ENSG00000048342" } }, "GRch38": { "90": { "location": "4:15469865-15601557", "ensembl_id": "ENSG00000048342" } } }, "hgnc_date_symbol_changed": "2007-10-19" }, "entity_type": "gene", "entity_name": "CC2D2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18387594", "18950740", "18513680", "18950740", "19574260", "21725307", "33486889", "22241855", "27081510", "30267408" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "COACH syndrome, MIM#216360", "Joubert syndrome 9, MIM#612285", "Meckel syndrome 6, MIM#612284", "Retinitis pigmentosa 93, MIM# 619845" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ30681", "KIAA1983" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29426", "gene_name": "collagen and calcium binding EGF domains 1", "omim_gene": [ "612753" ], "alias_name": null, "gene_symbol": "CCBE1", "hgnc_symbol": "CCBE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:57098172-57364612", "ensembl_id": "ENSG00000183287" } }, "GRch38": { "90": { "location": "18:59430940-59697380", "ensembl_id": "ENSG00000183287" } } }, "hgnc_date_symbol_changed": "2005-01-18" }, "entity_type": "gene", "entity_name": "CCBE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19935664", "19911200", "19287381", "25925991", "27345729", "21778431" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ13094", "FLJ34211", "PR46b", "CILD17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32700", "gene_name": "coiled-coil domain containing 103", "omim_gene": [ "614677" ], "alias_name": null, "gene_symbol": "CCDC103", "hgnc_symbol": "CCDC103", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42976510-42982758", "ensembl_id": "ENSG00000167131" } }, "GRch38": { "90": { "location": "17:44899142-44905390", "ensembl_id": "ENSG00000167131" } } }, "hgnc_date_symbol_changed": "2006-04-25" }, "entity_type": "gene", "entity_name": "CCDC103", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22581229, 32447765, 31858719, 28790179" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary dyskinesia, primary, 17, 614679 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ32926", "CILD20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26560", "gene_name": "coiled-coil domain containing 114", "omim_gene": [ "615038" ], "alias_name": null, "gene_symbol": "CCDC114", "hgnc_symbol": "CCDC114", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:48799714-48825151", "ensembl_id": "ENSG00000105479" } }, "GRch38": { "90": { "location": "19:48296457-48321894", "ensembl_id": "ENSG00000105479" } } }, "hgnc_date_symbol_changed": "2006-06-21" }, "entity_type": "gene", "entity_name": "CCDC114", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23261303", "23261302", "32855706", "23506398" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary dyskinesia, primary, 20, 615067 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC12981", "FLJ30131", "ccp1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28178", "gene_name": "coiled-coil domain containing 115", "omim_gene": [ "613734" ], "alias_name": null, "gene_symbol": "CCDC115", "hgnc_symbol": "CCDC115", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:131095814-131099922", "ensembl_id": "ENSG00000136710" } }, "GRch38": { "90": { "location": "2:130338241-130342349", "ensembl_id": "ENSG00000136710" } } }, "hgnc_date_symbol_changed": "2006-07-03" }, "entity_type": "gene", "entity_name": "CCDC115", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26833332" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIo, MIM#616828" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp434A128", "CILD14", "FAP59" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25244", "gene_name": "coiled-coil domain containing 39", "omim_gene": [ "613798" ], "alias_name": null, "gene_symbol": "CCDC39", "hgnc_symbol": "CCDC39", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:180320646-180588793", "ensembl_id": "ENSG00000145075" } }, "GRch38": { "90": { "location": "3:180602858-180871005", "ensembl_id": "ENSG00000145075" } } }, "hgnc_date_symbol_changed": "2005-11-11" }, "entity_type": "gene", "entity_name": "CCDC39", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21131972" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary dyskinesia, primary, 14, 613807 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20753", "KIAA1640", "FLJ32021", "CILD15", "FAP172" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26090", "gene_name": "coiled-coil domain containing 40", "omim_gene": [ "613799" ], "alias_name": null, "gene_symbol": "CCDC40", "hgnc_symbol": "CCDC40", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:78010435-78074412", "ensembl_id": "ENSG00000141519" } }, "GRch38": { "90": { "location": "17:80036632-80100613", "ensembl_id": "ENSG00000141519" } } }, "hgnc_date_symbol_changed": "2005-12-13" }, "entity_type": "gene", "entity_name": "CCDC40", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21131974", "31650533" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary dyskinesia, primary, 15 MIM#613808" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp564K0322", "3M3", "PPP1R20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25367", "gene_name": "coiled-coil domain containing 8", "omim_gene": [ "614145" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 20" ], "gene_symbol": "CCDC8", "hgnc_symbol": "CCDC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46913629-46916841", "ensembl_id": "ENSG00000169515" } }, "GRch38": { "90": { "location": "19:46410372-46413584", "ensembl_id": "ENSG00000169515" } } }, "hgnc_date_symbol_changed": "2004-02-11" }, "entity_type": "gene", "entity_name": "CCDC8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21737058" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "3-M syndrome 3, 614205 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DAPLE", "HkRP2", "SCA40" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19967", "gene_name": "coiled-coil domain containing 88C", "omim_gene": [ "611204" ], "alias_name": [ "Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40" ], "gene_symbol": "CCDC88C", "hgnc_symbol": "CCDC88C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:91737667-91884188", "ensembl_id": "ENSG00000015133" } }, "GRch38": { "90": { "location": "14:91271323-91417844", "ensembl_id": "ENSG00000015133" } } }, "hgnc_date_symbol_changed": "2007-05-31" }, "entity_type": "gene", "entity_name": "CCDC88C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34092257", "29341397", "23042809", "21031079" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hydrocephalus, congenital, 1 MIM#236600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UDG2", "FLJ22422", "UNG2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18576", "gene_name": "cyclin O", "omim_gene": [ "607752" ], "alias_name": null, "gene_symbol": "CCNO", "hgnc_symbol": "CCNO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:54526980-54529508", "ensembl_id": "ENSG00000152669" } }, "GRch38": { "90": { "location": "5:55231152-55233680", "ensembl_id": "ENSG00000152669" } } }, "hgnc_date_symbol_changed": "2007-07-26" }, "entity_type": "gene", "entity_name": "CCNO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24747639", "31765523", "28801648" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary diskinesia, primary, 29, MIM#615872" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "S152", "Tp55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11922", "gene_name": "CD27 molecule", "omim_gene": [ "186711" ], "alias_name": null, "gene_symbol": "CD27", "hgnc_symbol": "CD27", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6554033-6560884", "ensembl_id": "ENSG00000139193" } }, "GRch38": { "90": { "location": "12:6444867-6451718", "ensembl_id": "ENSG00000139193" } } }, "hgnc_date_symbol_changed": "2006-10-27" }, "entity_type": "gene", "entity_name": "CD27", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22197273", "22801960", "22365582", "25843314", "11062504" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lymphoproliferative syndrome 2, MIM# 615122" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:1673", "gene_name": "CD3d molecule", "omim_gene": [ "186790" ], "alias_name": null, "gene_symbol": "CD3D", "hgnc_symbol": "CD3D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118209669-118213459", "ensembl_id": "ENSG00000167286" } }, "GRch38": { "90": { "location": "11:118338954-118342744", "ensembl_id": "ENSG00000167286" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CD3D", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency 19, severe combined MIM# 615617" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p50", "Bp50" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11919", "gene_name": "CD40 molecule", "omim_gene": [ "109535" ], "alias_name": null, "gene_symbol": "CD40", "hgnc_symbol": "CD40", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:44746911-44758502", "ensembl_id": "ENSG00000101017" } }, "GRch38": { "90": { "location": "20:46118272-46129863", "ensembl_id": "ENSG00000101017" } } }, "hgnc_date_symbol_changed": "2005-01-14" }, "entity_type": "gene", "entity_name": "CD40", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency with hyper-IgM, type 3, 606843 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD40L", "TRAP", "gp39", "hCD40L", "CD154" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11935", "gene_name": "CD40 ligand", "omim_gene": [ "300386" ], "alias_name": [ "CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome" ], "gene_symbol": "CD40LG", "hgnc_symbol": "CD40LG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:135730352-135742549", "ensembl_id": "ENSG00000102245" } }, "GRch38": { "90": { "location": "X:136648193-136660390", "ensembl_id": "ENSG00000102245" } } }, "hgnc_date_symbol_changed": "2005-01-14" }, "entity_type": "gene", "entity_name": "CD40LG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7679801", "7679206", "8094231", "9933119", "15358621", "15997875", "7678782", "7915248", "15367912", "7518839", "16311023", "9933119", "12402041", "7882172", "33475257" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CR", "TC", "CROM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2665", "gene_name": "CD55 molecule (Cromer blood group)", "omim_gene": [ "125240" ], "alias_name": null, "gene_symbol": "CD55", "hgnc_symbol": "CD55", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:207494853-207534311", "ensembl_id": "ENSG00000196352" } }, "GRch38": { "90": { "location": "1:207321508-207386804", "ensembl_id": "ENSG00000196352" } } }, "hgnc_date_symbol_changed": "2006-02-23" }, "entity_type": "gene", "entity_name": "CD55", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28657829" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:1739", "gene_name": "cell division cycle 45", "omim_gene": [ "603465" ], "alias_name": [ "human CDC45" ], "gene_symbol": "CDC45", "hgnc_symbol": "CDC45", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:19466982-19508135", "ensembl_id": "ENSG00000093009" } }, "GRch38": { "90": { "location": "22:19479459-19520612", "ensembl_id": "ENSG00000093009" } } }, "hgnc_date_symbol_changed": "2010-03-24" }, "entity_type": "gene", "entity_name": "CDC45", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31474763", "27374770", "30986546", "33639314", "34000999", "11416137", "21358631" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Meier-Gorlin syndrome 7, 617063" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OB", "CAD11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1750", "gene_name": "cadherin 11", "omim_gene": [ "600023" ], "alias_name": [ "OB-Cadherin" ], "gene_symbol": "CDH11", "hgnc_symbol": "CDH11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:64977656-65160015", "ensembl_id": "ENSG00000140937" } }, "GRch38": { "90": { "location": "16:64943753-65126112", "ensembl_id": "ENSG00000140937" } } }, "hgnc_date_symbol_changed": "1995-03-30" }, "entity_type": "gene", "entity_name": "CDH11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29271567" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Elsahy-Waters syndrome MIM#211380" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHR23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13733", "gene_name": "cadherin related 23", "omim_gene": [ "605516" ], "alias_name": [ "cadherin-related family member 23" ], "gene_symbol": "CDH23", "hgnc_symbol": "CDH23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73156691-73575702", "ensembl_id": "ENSG00000107736" } }, "GRch38": { "90": { "location": "10:71396934-71815947", "ensembl_id": "ENSG00000107736" } } }, "hgnc_date_symbol_changed": "2000-10-19" }, "entity_type": "gene", "entity_name": "CDH23", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33316915" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Usher syndrome, type 1D (MIM#601067)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHP", "PCAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1762", "gene_name": "cadherin 3", "omim_gene": [ "114021" ], "alias_name": [ "P-cadherin" ], "gene_symbol": "CDH3", "hgnc_symbol": "CDH3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:68670092-68756519", "ensembl_id": "ENSG00000062038" } }, "GRch38": { "90": { "location": "16:68636189-68722616", "ensembl_id": "ENSG00000062038" } } }, "hgnc_date_symbol_changed": "1992-07-10" }, "entity_type": "gene", "entity_name": "CDH3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11544476", "15805154", "28061825", "22140374" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280", "Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PISSLRE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1770", "gene_name": "cyclin dependent kinase 10", "omim_gene": [ "603464" ], "alias_name": null, "gene_symbol": "CDK10", "hgnc_symbol": "CDK10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89747145-89762772", "ensembl_id": "ENSG00000185324" } }, "GRch38": { "90": { "location": "16:89680737-89696364", "ensembl_id": "ENSG00000185324" } } }, "hgnc_date_symbol_changed": "1998-11-30" }, "entity_type": "gene", "entity_name": "CDK10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28886341", "29130579", "34974531" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Al Kaissi syndrome, 617694 (3), Autosomal recessive" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C48", "FLJ10867", "CEP215" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18672", "gene_name": "CDK5 regulatory subunit associated protein 2", "omim_gene": [ "608201" ], "alias_name": [ "centrosomin" ], "gene_symbol": "CDK5RAP2", "hgnc_symbol": "CDK5RAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:123151147-123342448", "ensembl_id": "ENSG00000136861" } }, "GRch38": { "90": { "location": "9:120388869-120580170", "ensembl_id": "ENSG00000136861" } } }, "hgnc_date_symbol_changed": "2002-07-22" }, "entity_type": "gene", "entity_name": "CDK5RAP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15793586", "22887808", "23995685", "23726037", "27761245", "20460369", "32677750", "32015000" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 3, primary, autosomal recessive, MIM#604804" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DUP", "RIS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24576", "gene_name": "chromatin licensing and DNA replication factor 1", "omim_gene": [ "605525" ], "alias_name": null, "gene_symbol": "CDT1", "hgnc_symbol": "CDT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88869621-88875666", "ensembl_id": "ENSG00000167513" } }, "GRch38": { "90": { "location": "16:88803213-88809258", "ensembl_id": "ENSG00000167513" } } }, "hgnc_date_symbol_changed": "2006-05-25" }, "entity_type": "gene", "entity_name": "CDT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11992493", "21358631" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Meier-Gorlin syndrome 4, 613804 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CPAP", "BM032", "LAP", "LIP1", "Sas-4", "SASS4", "SCKL4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17272", "gene_name": "centromere protein J", "omim_gene": [ "609279" ], "alias_name": [ "centrosomal P4.1-associated protein" ], "gene_symbol": "CENPJ", "hgnc_symbol": "CENPJ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:25457171-25497018", "ensembl_id": "ENSG00000151849" } }, "GRch38": { "90": { "location": "13:24882284-24922889", "ensembl_id": "ENSG00000151849" } } }, "hgnc_date_symbol_changed": "2002-02-15" }, "entity_type": "gene", "entity_name": "CENPJ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "36334884" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 6, primary MIM#608393", "Seckel syndrome 4 MIM#613676" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ36090" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26690", "gene_name": "centrosomal protein 120", "omim_gene": [ "613446" ], "alias_name": null, "gene_symbol": "CEP120", "hgnc_symbol": "CEP120", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:122680579-122759286", "ensembl_id": "ENSG00000168944" } }, "GRch38": { "90": { "location": "5:123344885-123423592", "ensembl_id": "ENSG00000168944" } } }, "hgnc_date_symbol_changed": "2008-08-14" }, "entity_type": "gene", "entity_name": "CEP120", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27208211", "33486889", "29847808", "25361962", "27208211" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Joubert syndrome 31, MIM# 617761", "Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0912", "SCKL5", "MCPH9" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29298", "gene_name": "centrosomal protein 152", "omim_gene": [ "613529" ], "alias_name": [ "asterless" ], "gene_symbol": "CEP152", "hgnc_symbol": "CEP152", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:49005125-49103343", "ensembl_id": "ENSG00000103995" } }, "GRch38": { "90": { "location": "15:48712928-48811146", "ensembl_id": "ENSG00000103995" } } }, "hgnc_date_symbol_changed": "2005-12-01" }, "entity_type": "gene", "entity_name": "CEP152", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20598275", "22775483", "21131973", "23199753", "36685824" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 9, primary, autosomal recessive, MIM# 614852", "MONDO:0013923", "Seckel syndrome 5, MIM# 613823", "MONDO:0013443" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0373", "FLJ13615", "3H11Ag", "rd16", "NPHP6", "JBTS5", "SLSN6", "LCA10", "MKS4", "BBS14", "CT87", "POC3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29021", "gene_name": "centrosomal protein 290", "omim_gene": [ "610142" ], "alias_name": [ "Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4", "Bardet-Biedl syndrome 14" ], "gene_symbol": "CEP290", "hgnc_symbol": "CEP290", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:88442793-88535993", "ensembl_id": "ENSG00000198707" } }, "GRch38": { "90": { "location": "12:88049014-88142216", "ensembl_id": "ENSG00000198707" } } }, "hgnc_date_symbol_changed": "2006-02-20" }, "entity_type": "gene", "entity_name": "CEP290", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17345604", "16909394", "24807808", "16682970", "16682973", "27434533", "20690115", "32208788" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Joubert syndrome 5, 610188 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp762H1311", "FLJ22445", "JBTS15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12370", "gene_name": "centrosomal protein 41", "omim_gene": [ "610523" ], "alias_name": null, "gene_symbol": "CEP41", "hgnc_symbol": "CEP41", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:130033612-130082274", "ensembl_id": "ENSG00000106477" } }, "GRch38": { "90": { "location": "7:130393771-130442433", "ensembl_id": "ENSG00000106477" } } }, "hgnc_date_symbol_changed": "2011-10-04" }, "entity_type": "gene", "entity_name": "CEP41", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22246503", "36580738" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Joubert syndrome 15, MIM# 614464" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ12643" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25740", "gene_name": "centrosomal protein 78", "omim_gene": [ "617110" ], "alias_name": null, "gene_symbol": "CEP78", "hgnc_symbol": "CEP78", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:80850978-80894606", "ensembl_id": "ENSG00000148019" } }, "GRch38": { "90": { "location": "9:78236062-78279690", "ensembl_id": "ENSG00000148019" } } }, "hgnc_date_symbol_changed": "2005-12-01" }, "entity_type": "gene", "entity_name": "CEP78", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35240912" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cone-rod dystrophy and hearing loss, MIM#617236" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC27091" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23752", "gene_name": "ceramide synthase 3", "omim_gene": [ "615276" ], "alias_name": null, "gene_symbol": "CERS3", "hgnc_symbol": "CERS3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:100940600-101085200", "ensembl_id": "ENSG00000154227" } }, "GRch38": { "90": { "location": "15:100400395-100544995", "ensembl_id": "ENSG00000154227" } } }, "hgnc_date_symbol_changed": "2011-07-08" }, "entity_type": "gene", "entity_name": "CERS3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23754960", "23549421", "31168818", "30578701", "37128664" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ichthyosis, congenital, autosomal recessive 9, MIM# 615023", "MONDO:0014010" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ADN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2771", "gene_name": "complement factor D", "omim_gene": [ "134350" ], "alias_name": [ "adipsin" ], "gene_symbol": "CFD", "hgnc_symbol": "CFD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:859453-863453", "ensembl_id": "ENSG00000197766" } }, "GRch38": { "90": { "location": "19:859643-863630", "ensembl_id": "ENSG00000197766" } } }, "hgnc_date_symbol_changed": "2006-02-10" }, "entity_type": "gene", "entity_name": "CFD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11457876", "16527897", "31440263" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Complement factor D deficiency, MIM# 613912" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HUS", "FHL1", "ARMS1", "ARMD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4883", "gene_name": "complement factor H", "omim_gene": [ "134370" ], "alias_name": [ "beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1" ], "gene_symbol": "CFH", "hgnc_symbol": "CFH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:196621008-196716634", "ensembl_id": "ENSG00000000971" } }, "GRch38": { "90": { "location": "1:196651878-196747504", "ensembl_id": "ENSG00000000971" } } }, "hgnc_date_symbol_changed": "2004-08-12" }, "entity_type": "gene", "entity_name": "CFH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Complement factor H deficiency, 609814 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FI", "C3b-INA", "KAF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5394", "gene_name": "complement factor I", "omim_gene": [ "217030" ], "alias_name": [ "Konglutinogen-activating factor", "C3b-inactivator" ], "gene_symbol": "CFI", "hgnc_symbol": "CFI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:110661852-110723335", "ensembl_id": "ENSG00000205403" } }, "GRch38": { "90": { "location": "4:109740694-109802179", "ensembl_id": "ENSG00000205403" } } }, "hgnc_date_symbol_changed": "2006-02-10" }, "entity_type": "gene", "entity_name": "CFI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28942469" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Complement factor I deficiency, MIM#610984" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NEM7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1875", "gene_name": "cofilin 2", "omim_gene": [ "601443" ], "alias_name": [ "nemaline myopathy type 7" ], "gene_symbol": "CFL2", "hgnc_symbol": "CFL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:35179593-35184029", "ensembl_id": "ENSG00000165410" } }, "GRch38": { "90": { "location": "14:34706769-34714823", "ensembl_id": "ENSG00000165410" } } }, "hgnc_date_symbol_changed": "1995-07-11" }, "entity_type": "gene", "entity_name": "CFL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29457652", "17160903", "22560515" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Nemaline myopathy 7, autosomal recessive, 610687 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:8864", "gene_name": "complement factor properdin", "omim_gene": [ "300383" ], "alias_name": null, "gene_symbol": "CFP", "hgnc_symbol": "CFP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:47483612-47489704", "ensembl_id": "ENSG00000126759" } }, "GRch38": { "90": { "location": "X:47623172-47630305", "ensembl_id": "ENSG00000126759" } } }, "hgnc_date_symbol_changed": "2006-03-02" }, "entity_type": "gene", "entity_name": "CFP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22229731", "10909851" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Properdin deficiency, X-linked, 312060 (3)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MRP7", "ABC35", "TNR-CFTR", "dJ760C5.1", "CFTR/MRP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1884", "gene_name": "cystic fibrosis transmembrane conductance regulator", "omim_gene": [ "602421" ], "alias_name": [ "ATP-binding cassette sub-family C, member 7" ], "gene_symbol": "CFTR", "hgnc_symbol": "CFTR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:117105838-117356025", "ensembl_id": "ENSG00000001626" } }, "GRch38": { "90": { "location": "7:117465784-117715971", "ensembl_id": "ENSG00000001626" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CFTR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31199594", "19092437", "38153325", "26708955", "32172939" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cystic fibrosis, MIM#219700", "MONDO:0009061" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:1912", "gene_name": "choline O-acetyltransferase", "omim_gene": [ "118490" ], "alias_name": null, "gene_symbol": "CHAT", "hgnc_symbol": "CHAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:50817141-50901925", "ensembl_id": "ENSG00000070748" } }, "GRch38": { "90": { "location": "10:49609095-49665104", "ensembl_id": "ENSG00000070748" } } }, "hgnc_date_symbol_changed": "1990-03-14" }, "entity_type": "gene", "entity_name": "CHAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11172068", "12756141", "31192527", "29518833", "29189923" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CHETK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1938", "gene_name": "choline kinase beta", "omim_gene": [ "612395" ], "alias_name": null, "gene_symbol": "CHKB", "hgnc_symbol": "CHKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:51017378-51039884", "ensembl_id": "ENSG00000100288" } }, "GRch38": { "90": { "location": "22:50578949-50601455", "ensembl_id": "ENSG00000100288" } } }, "hgnc_date_symbol_changed": "2004-04-19" }, "entity_type": "gene", "entity_name": "CHKB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21665002", "23692895", "24997086" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Muscular dystrophy, congenital, megaconial type, MIM#602541" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "REP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1940", "gene_name": "CHM, Rab escort protein 1", "omim_gene": [ "300390" ], "alias_name": null, "gene_symbol": "CHM", "hgnc_symbol": "CHM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:85116185-85302566", "ensembl_id": "ENSG00000188419" } }, "GRch38": { "90": { "location": "X:85861180-86047562", "ensembl_id": "ENSG00000188419" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CHM", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33110609", "27820636" ], "evidence": [ "Expert Review Red", "Mackenzie's Mission" ], "phenotypes": [ "Choroideremia (MIM#303100)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:1955", "gene_name": "cholinergic receptor nicotinic alpha 1 subunit", "omim_gene": [ "100690" ], "alias_name": [ "acetylcholine receptor, nicotinic, alpha 1 (muscle)" ], "gene_symbol": "CHRNA1", "hgnc_symbol": "CHRNA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:175612320-175629200", "ensembl_id": "ENSG00000138435" } }, "GRch38": { "90": { "location": "2:174747592-174787935", "ensembl_id": "ENSG00000138435" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "CHRNA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18806275", "10195214", "12588888", "18252226", "36092864" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Multiple pterygium syndrome, lethal type, MIM#253290", "Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930", "Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:1965", "gene_name": "cholinergic receptor nicotinic delta subunit", "omim_gene": [ "100720" ], "alias_name": [ "acetylcholine receptor, nicotinic, delta (muscle)" ], "gene_symbol": "CHRND", "hgnc_symbol": "CHRND", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:233390703-233401377", "ensembl_id": "ENSG00000135902" } }, "GRch38": { "90": { "location": "2:232525993-232536667", "ensembl_id": "ENSG00000135902" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CHRND", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30808424" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Multiple pterygium syndrome, lethal type MIM#253290", "Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ACHRE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1966", "gene_name": "cholinergic receptor nicotinic epsilon subunit", "omim_gene": [ "100725" ], "alias_name": [ "acetylcholine receptor, nicotinic, epsilon (muscle)" ], "gene_symbol": "CHRNE", "hgnc_symbol": "CHRNE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:4801069-4806369", "ensembl_id": "ENSG00000108556" } }, "GRch38": { "90": { "location": "17:4897774-4903074", "ensembl_id": "ENSG00000108556" } } }, "hgnc_date_symbol_changed": "1992-04-23" }, "entity_type": "gene", "entity_name": "CHRNE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 20301347" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809", "Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324", "Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:1967", "gene_name": "cholinergic receptor nicotinic gamma subunit", "omim_gene": [ "100730" ], "alias_name": [ "acetylcholine receptor, nicotinic, gamma (muscle)" ], "gene_symbol": "CHRNG", "hgnc_symbol": "CHRNG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:233404437-233411113", "ensembl_id": "ENSG00000196811" } }, "GRch38": { "90": { "location": "2:232539727-232546403", "ensembl_id": "ENSG00000196811" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "CHRNG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16826520", "16826531", "22167768" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Escobar syndrome (MIM# 265000)", "Multiple pterygium syndrome, lethal type, (MIM# 253290)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HD4ST", "D4ST-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24464", "gene_name": "carbohydrate sulfotransferase 14", "omim_gene": [ "608429" ], "alias_name": null, "gene_symbol": "CHST14", "hgnc_symbol": "CHST14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40763160-40765353", "ensembl_id": "ENSG00000169105" } }, "GRch38": { "90": { "location": "15:40470998-40474571", "ensembl_id": "ENSG00000169105" } } }, "hgnc_date_symbol_changed": "2007-03-27" }, "entity_type": "gene", "entity_name": "CHST14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34815299" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C6ST", "C6ST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1971", "gene_name": "carbohydrate sulfotransferase 3", "omim_gene": [ "603799" ], "alias_name": [ "chondroitin 6 sulfotransferase 1" ], "gene_symbol": "CHST3", "hgnc_symbol": "CHST3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73724123-73773322", "ensembl_id": "ENSG00000122863" } }, "GRch38": { "90": { "location": "10:71964365-72013564", "ensembl_id": "ENSG00000122863" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "CHST3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18513679" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0990", "CSS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17198", "gene_name": "chondroitin sulfate synthase 1", "omim_gene": [ "608183" ], "alias_name": null, "gene_symbol": "CHSY1", "hgnc_symbol": "CHSY1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:101715928-101792137", "ensembl_id": "ENSG00000131873" } }, "GRch38": { "90": { "location": "15:101175723-101251932", "ensembl_id": "ENSG00000131873" } } }, "hgnc_date_symbol_changed": "2008-01-24" }, "entity_type": "gene", "entity_name": "CHSY1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21129728", "21129727", "24269551" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Temtamy preaxial brachydactyly syndrome, MIM# 605282" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C2TA", "NLRA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7067", "gene_name": "class II major histocompatibility complex transactivator", "omim_gene": [ "600005" ], "alias_name": [ "NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing" ], "gene_symbol": "CIITA", "hgnc_symbol": "CIITA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:10971055-11026079", "ensembl_id": "ENSG00000179583" } }, "GRch38": { "90": { "location": "16:10866222-10932281", "ensembl_id": "ENSG00000179583" } } }, "hgnc_date_symbol_changed": "2005-08-12" }, "entity_type": "gene", "entity_name": "CIITA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8402893 9099848 11862382", "28676232", "24789686", "20197681", "11466404", "15821736", "12910265" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Miner1", "ERIS", "NAF-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24212", "gene_name": "CDGSH iron sulfur domain 2", "omim_gene": [ "611507" ], "alias_name": [ "mitoNEET related 1", "endoplasmic reticulum intermembrane small protein", "nutrient-deprivation autophagy factor-1" ], "gene_symbol": "CISD2", "hgnc_symbol": "CISD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:103790135-103810399", "ensembl_id": "ENSG00000145354" } }, "GRch38": { "90": { "location": "4:102868978-102889242", "ensembl_id": "ENSG00000145354" } } }, "hgnc_date_symbol_changed": "2007-08-10" }, "entity_type": "gene", "entity_name": "CISD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "35055657", "29237418", "28335035", "27459537", "26230298", "17846994" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Wolfram syndrome 2 MIM#604928", "MONDO:0011502" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0949", "STK21", "CRIK", "CITK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1985", "gene_name": "citron rho-interacting serine/threonine kinase", "omim_gene": [ "605629" ], "alias_name": [ "serine/threonine kinase 21" ], "gene_symbol": "CIT", "hgnc_symbol": "CIT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:120123595-120315095", "ensembl_id": "ENSG00000122966" } }, "GRch38": { "90": { "location": "12:119685790-119877291", "ensembl_id": "ENSG00000122966" } } }, "hgnc_date_symbol_changed": "1999-08-05" }, "entity_type": "gene", "entity_name": "CIT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27453578", "27503289", "27453579", "27519304" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Microcephaly 17, primary, autosomal recessive, 617090 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ40629", "radmis" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26877", "gene_name": "cytoskeleton associated protein 2 like", "omim_gene": [ "616174" ], "alias_name": [ "radial fiber and mitotic spindle" ], "gene_symbol": "CKAP2L", "hgnc_symbol": "CKAP2L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:113493930-113522254", "ensembl_id": "ENSG00000169607" } }, "GRch38": { "90": { "location": "2:112736607-112764677", "ensembl_id": "ENSG00000169607" } } }, "hgnc_date_symbol_changed": "2006-03-24" }, "entity_type": "gene", "entity_name": "CKAP2L", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25439729", "33913579", "29473684" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Filippi syndrome, MIM#272440" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NNT1", "BSF3", "CLC", "NR6", "CISS2", "BSF-3", "NNT-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17412", "gene_name": "cardiotrophin like cytokine factor 1", "omim_gene": [ "607672" ], "alias_name": [ "B-cell stimulating factor 3", "cold-induced sweating syndrome 2", "novel neurotrophin-1" ], "gene_symbol": "CLCF1", "hgnc_symbol": "CLCF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:67131639-67141648", "ensembl_id": "ENSG00000175505" } }, "GRch38": { "90": { "location": "11:67364168-67374177", "ensembl_id": "ENSG00000175505" } } }, "hgnc_date_symbol_changed": "2005-02-22" }, "entity_type": "gene", "entity_name": "CLCF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16782820", "21370513", "20400119" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cold-induced sweating syndrome 2, 610313 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CLC2", "EJM6", "ClC-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2020", "gene_name": "chloride voltage-gated channel 2", "omim_gene": [ "600570" ], "alias_name": null, "gene_symbol": "CLCN2", "hgnc_symbol": "CLCN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:184063973-184079439", "ensembl_id": "ENSG00000114859" } }, "GRch38": { "90": { "location": "3:184346185-184361651", "ensembl_id": "ENSG00000114859" } } }, "hgnc_date_symbol_changed": "1994-01-28" }, "entity_type": "gene", "entity_name": "CLCN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23707145", "38173802", "29403011", "29403012" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Leukoencephalopathy with ataxia MIM#615651", "leukoencephalopathy with mild cerebellar ataxia and white matter oedema MONDO:0014292" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CLC4", "ClC-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2022", "gene_name": "chloride voltage-gated channel 4", "omim_gene": [ "302910" ], "alias_name": null, "gene_symbol": "CLCN4", "hgnc_symbol": "CLCN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:10125024-10205700", "ensembl_id": "ENSG00000073464" } }, "GRch38": { "90": { "location": "X:10156945-10237660", "ensembl_id": "ENSG00000073464" } } }, "hgnc_date_symbol_changed": "1994-01-28" }, "entity_type": "gene", "entity_name": "CLCN4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27550844", "33951195", "25644381", "34479510", "37409888" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Raynaud-Claes syndrome, MIM #300114" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DENTS", "XLRH", "hClC-K2", "hCIC-K2", "CLC5", "XRN", "ClC-5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2023", "gene_name": "chloride voltage-gated channel 5", "omim_gene": [ "300008" ], "alias_name": [ "Dent disease" ], "gene_symbol": "CLCN5", "hgnc_symbol": "CLCN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:49687225-49863892", "ensembl_id": "ENSG00000171365" } }, "GRch38": { "90": { "location": "X:49922615-50099235", "ensembl_id": "ENSG00000171365" } } }, "hgnc_date_symbol_changed": "1994-01-28" }, "entity_type": "gene", "entity_name": "CLCN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Dent disease, MIM#300009" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CLC-7", "OPTA2", "CLC7", "ClC-7", "PPP1R63" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2025", "gene_name": "chloride voltage-gated channel 7", "omim_gene": [ "602727" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 63" ], "gene_symbol": "CLCN7", "hgnc_symbol": "CLCN7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1494935-1525581", "ensembl_id": "ENSG00000103249" } }, "GRch38": { "90": { "location": "16:1444934-1475580", "ensembl_id": "ENSG00000103249" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "CLCN7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19507210", "11207362", "11741829", "14584882", "19953639" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Osteopetrosis, autosomal recessive 4, 611490 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "hClC-Kb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2027", "gene_name": "chloride voltage-gated channel Kb", "omim_gene": [ "602023" ], "alias_name": null, "gene_symbol": "CLCNKB", "hgnc_symbol": "CLCNKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:16370272-16383803", "ensembl_id": "ENSG00000184908" } }, "GRch38": { "90": { "location": "1:16043736-16057308", "ensembl_id": "ENSG00000184908" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "CLCNKB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25810436", "24965226" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bartter syndrome, type 3 MIM#607364" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SEMP1", "ILVASC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2032", "gene_name": "claudin 1", "omim_gene": [ "603718" ], "alias_name": [ "senescence-associated epithelial membrane protein 1" ], "gene_symbol": "CLDN1", "hgnc_symbol": "CLDN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:190023490-190040264", "ensembl_id": "ENSG00000163347" } }, "GRch38": { "90": { "location": "3:190305701-190322475", "ensembl_id": "ENSG00000163347" } } }, "hgnc_date_symbol_changed": "1998-11-19" }, "entity_type": "gene", "entity_name": "CLDN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11889141", "12164927", "35304779", "36779798" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OSP-L", "CPETRL3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2033", "gene_name": "claudin 10", "omim_gene": [ "617579" ], "alias_name": null, "gene_symbol": "CLDN10", "hgnc_symbol": "CLDN10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:96085858-96232013", "ensembl_id": "ENSG00000134873" } }, "GRch38": { "90": { "location": "13:95433604-95579759", "ensembl_id": "ENSG00000134873" } } }, "hgnc_date_symbol_changed": "1999-01-22" }, "entity_type": "gene", "entity_name": "CLDN10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "37984702", "31671507", "28674042", "38927623" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "HELIX syndrome, MIM#617671" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2040", "gene_name": "claudin 19", "omim_gene": [ "610036" ], "alias_name": null, "gene_symbol": "CLDN19", "hgnc_symbol": "CLDN19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43198764-43205925", "ensembl_id": "ENSG00000164007" } }, "GRch38": { "90": { "location": "1:42733093-42740254", "ensembl_id": "ENSG00000164007" } } }, "hgnc_date_symbol_changed": "2000-03-15" }, "entity_type": "gene", "entity_name": "CLDN19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27530400", "17033971", "22422540" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ASAM", "FLJ22415", "ACAM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24039", "gene_name": "CXADR like membrane protein", "omim_gene": [ "611693" ], "alias_name": [ "adipocyte-specific adhesion molecule", "coxsackie- and adenovirus receptor-like membrane protein", "adipocyte adhesion molecule" ], "gene_symbol": "CLMP", "hgnc_symbol": "CLMP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:122943035-123065989", "ensembl_id": "ENSG00000166250" } }, "GRch38": { "90": { "location": "11:123069865-123195281", "ensembl_id": "ENSG00000166250" } } }, "hgnc_date_symbol_changed": "2011-01-27" }, "entity_type": "gene", "entity_name": "CLMP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22155368" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Congenital short bowel syndrome , MIM#615237" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JNCL", "BTN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2074", "gene_name": "CLN3, battenin", "omim_gene": [ "607042" ], "alias_name": [ "juvenile neuronal ceroid lipofuscinosis" ], "gene_symbol": "CLN3", "hgnc_symbol": "CLN3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28477983-28506896", "ensembl_id": "ENSG00000188603" } }, "GRch38": { "90": { "location": "16:28474111-28495575", "ensembl_id": "ENSG00000188603" } } }, "hgnc_date_symbol_changed": "1989-06-06" }, "entity_type": "gene", "entity_name": "CLN3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7553855", "9004140", "9311735", "31926949" ], "evidence": [ "Expert Review Amber", "Mackenzie's Mission" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 3, MIM# 204200", "MONDO:0008767" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2076", "gene_name": "CLN5, intracellular trafficking protein", "omim_gene": [ "608102" ], "alias_name": null, "gene_symbol": "CLN5", "hgnc_symbol": "CLN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:77564795-77576652", "ensembl_id": "ENSG00000102805" } }, "GRch38": { "90": { "location": "13:76990660-77019143", "ensembl_id": "ENSG00000102805" } } }, "hgnc_date_symbol_changed": "1993-11-03" }, "entity_type": "gene", "entity_name": "CLN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 5, MIM# 256731", "MONDO:0009745" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20561", "HsT18960", "nclf" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2077", "gene_name": "CLN6, transmembrane ER protein", "omim_gene": [ "606725" ], "alias_name": null, "gene_symbol": "CLN6", "hgnc_symbol": "CLN6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:68499330-68549549", "ensembl_id": "ENSG00000128973" } }, "GRch38": { "90": { "location": "15:68206992-68257211", "ensembl_id": "ENSG00000128973" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "CLN6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30561534" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal 6, 601780 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ39417" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2079", "gene_name": "CLN8, transmembrane ER and ERGIC protein", "omim_gene": [ "607837" ], "alias_name": null, "gene_symbol": "CLN8", "hgnc_symbol": "CLN8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:1703944-1734738", "ensembl_id": "ENSG00000182372" } }, "GRch38": { "90": { "location": "8:1755778-1801711", "ensembl_id": "ENSG00000182372" } } }, "hgnc_date_symbol_changed": "1993-12-15" }, "entity_type": "gene", "entity_name": "CLN8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 8, 600143 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HEAB", "hClp1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16999", "gene_name": "cleavage and polyadenylation factor I subunit 1", "omim_gene": [ "608757" ], "alias_name": [ "ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase" ], "gene_symbol": "CLP1", "hgnc_symbol": "CLP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:57416465-57429340", "ensembl_id": "ENSG00000172409" } }, "GRch38": { "90": { "location": "11:57648992-57661868", "ensembl_id": "ENSG00000172409" } } }, "hgnc_date_symbol_changed": "2006-11-13" }, "entity_type": "gene", "entity_name": "CLP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24766809", "24766810", "23474986", "29307788" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 10, 615803 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSP78", "SKD3", "FLJ13152", "ANKCLB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30664", "gene_name": "ClpB homolog, mitochondrial AAA ATPase chaperonin", "omim_gene": [ "616254" ], "alias_name": [ "suppressor of potassium transport defect 3", "ankyrin-repeat containing bacterial clp fusion" ], "gene_symbol": "CLPB", "hgnc_symbol": "CLPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:72003469-72145692", "ensembl_id": "ENSG00000162129" } }, "GRch38": { "90": { "location": "11:72292425-72434680", "ensembl_id": "ENSG00000162129" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "CLPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "34140661" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2084", "gene_name": "caseinolytic mitochondrial matrix peptidase proteolytic subunit", "omim_gene": [ "601119" ], "alias_name": [ "ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human" ], "gene_symbol": "CLPP", "hgnc_symbol": "CLPP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:6361463-6368919", "ensembl_id": "ENSG00000125656" } }, "GRch38": { "90": { "location": "19:6361452-6368908", "ensembl_id": "ENSG00000125656" } } }, "hgnc_date_symbol_changed": "1999-09-20" }, "entity_type": "gene", "entity_name": "CLPP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23541340", "27087618", "27899912", "25254289" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Perrault syndrome 3, 614129 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:12605", "gene_name": "clarin 1", "omim_gene": [ "606397" ], "alias_name": null, "gene_symbol": "CLRN1", "hgnc_symbol": "CLRN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:150643950-150690786", "ensembl_id": "ENSG00000163646" } }, "GRch38": { "90": { "location": "3:150926163-150972999", "ensembl_id": "ENSG00000163646" } } }, "hgnc_date_symbol_changed": "2006-11-23" }, "entity_type": "gene", "entity_name": "CLRN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23304067", "35481838" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Usher syndrome, type 3A (MIM#276902)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CCNC1", "CCNCa", "CNG3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2150", "gene_name": "cyclic nucleotide gated channel alpha 3", "omim_gene": [ "600053" ], "alias_name": null, "gene_symbol": "CNGA3", "hgnc_symbol": "CNGA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:98962618-99015064", "ensembl_id": "ENSG00000144191" } }, "GRch38": { "90": { "location": "2:98346155-98398601", "ensembl_id": "ENSG00000144191" } } }, "hgnc_date_symbol_changed": "1994-12-20" }, "entity_type": "gene", "entity_name": "CNGA3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11536077", "35332618" ], "evidence": [ "Expert Review Amber", "Mackenzie's Mission" ], "phenotypes": [ "Achromatopsia-2, 216900 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2153", "gene_name": "cyclic nucleotide gated channel beta 3", "omim_gene": [ "605080" ], "alias_name": null, "gene_symbol": "CNGB3", "hgnc_symbol": "CNGB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:87566205-87755903", "ensembl_id": "ENSG00000170289" } }, "GRch38": { "90": { "location": "8:86553977-86743675", "ensembl_id": "ENSG00000170289" } } }, "hgnc_date_symbol_changed": "2000-07-12" }, "entity_type": "gene", "entity_name": "CNGB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17265047", "28795510", "12140185", "28795510" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Macular degeneration, juvenile, 248200 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1592" ], "biotype": "protein_coding", "hgnc_id": "HGNC:105", "gene_name": "cyclin and CBS domain divalent metal cation transport mediator 4", "omim_gene": [ "607805" ], "alias_name": null, "gene_symbol": "CNNM4", "hgnc_symbol": "CNNM4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:97426639-97477628", "ensembl_id": "ENSG00000158158" } }, "GRch38": { "90": { "location": "2:96760902-96811891", "ensembl_id": "ENSG00000158158" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "CNNM4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30705057", "29421294", "19200527", "19200525" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Jalili syndrome, 217080 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p190", "Caspr", "CNTNAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8011", "gene_name": "contactin associated protein 1", "omim_gene": [ "602346" ], "alias_name": [ "neurexin 4" ], "gene_symbol": "CNTNAP1", "hgnc_symbol": "CNTNAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40834631-40851832", "ensembl_id": "ENSG00000108797" } }, "GRch38": { "90": { "location": "17:42682613-42699814", "ensembl_id": "ENSG00000108797" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "CNTNAP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28374019", "29511323", "29882456", "27668699" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lethal congenital contracture syndrome 7, MIM # 616286", "Hypomyelinating neuropathy, congenital, 3, MIM # 618186" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Caspr2", "KIAA0868", "NRXN4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13830", "gene_name": "contactin associated protein like 2", "omim_gene": [ "604569" ], "alias_name": null, "gene_symbol": "CNTNAP2", "hgnc_symbol": "CNTNAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:145813453-148118090", "ensembl_id": "ENSG00000174469" } }, "GRch38": { "90": { "location": "7:146116002-148420998", "ensembl_id": "ENSG00000174469" } } }, "hgnc_date_symbol_changed": "2001-06-01" }, "entity_type": "gene", "entity_name": "CNTNAP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16571880", "19896112", "27439707", "37183190", "30762603" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Pitt-Hopkins like syndrome 1 MIM#610042" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "COD2", "KIAA1134" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18621", "gene_name": "component of oligomeric golgi complex 6", "omim_gene": [ "606977" ], "alias_name": null, "gene_symbol": "COG6", "hgnc_symbol": "COG6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:40229764-40365802", "ensembl_id": "ENSG00000133103" } }, "GRch38": { "90": { "location": "13:39655627-39791665", "ensembl_id": "ENSG00000133103" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20605848", "23430903", "26260076", "32905044", "32683677", "31420886" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIl, 614576 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:18622", "gene_name": "component of oligomeric golgi complex 7", "omim_gene": [ "606978" ], "alias_name": null, "gene_symbol": "COG7", "hgnc_symbol": "COG7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:23399814-23464501", "ensembl_id": "ENSG00000168434" } }, "GRch38": { "90": { "location": "16:23388493-23453180", "ensembl_id": "ENSG00000168434" } } }, "hgnc_date_symbol_changed": "2002-05-09" }, "entity_type": "gene", "entity_name": "COG7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15107842", "17356545", "28883096", "17395513", "16151902" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIe, MIM # 608779" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "STL2", "CO11A1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2186", "gene_name": "collagen type XI alpha 1 chain", "omim_gene": [ "120280" ], "alias_name": [ "collagen XI, alpha-1 polypeptide" ], "gene_symbol": "COL11A1", "hgnc_symbol": "COL11A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:103342023-103574052", "ensembl_id": "ENSG00000060718" } }, "GRch38": { "90": { "location": "1:102876467-103108496", "ensembl_id": "ENSG00000060718" } } }, "hgnc_date_symbol_changed": "1989-05-08" }, "entity_type": "gene", "entity_name": "COL11A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21035103", "32427345" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Fibrochondrogenesis 1, 228520 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HKE5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2187", "gene_name": "collagen type XI alpha 2 chain", "omim_gene": [ "120290" ], "alias_name": null, "gene_symbol": "COL11A2", "hgnc_symbol": "COL11A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33130458-33160276", "ensembl_id": "ENSG00000204248" } }, "GRch38": { "90": { "location": "6:33162681-33192499", "ensembl_id": "ENSG00000204248" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "COL11A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10581026", "25633957", "16033917", "25240749", "22796475", "20112039" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Fibrochondrogenesis 2 MIM#614524" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BP180" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2194", "gene_name": "collagen type XVII alpha 1 chain", "omim_gene": [ "113811" ], "alias_name": null, "gene_symbol": "COL17A1", "hgnc_symbol": "COL17A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:105791044-105845760", "ensembl_id": "ENSG00000065618" } }, "GRch38": { "90": { "location": "10:104031286-104086002", "ensembl_id": "ENSG00000065618" } } }, "hgnc_date_symbol_changed": "1993-09-27" }, "entity_type": "gene", "entity_name": "COL17A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301304", "21357940" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KS", "KNO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2195", "gene_name": "collagen type XVIII alpha 1 chain", "omim_gene": [ "120328" ], "alias_name": [ "endostatin" ], "gene_symbol": "COL18A1", "hgnc_symbol": "COL18A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:46825052-46933634", "ensembl_id": "ENSG00000182871" } }, "GRch38": { "90": { "location": "21:45405137-45513720", "ensembl_id": "ENSG00000182871" } } }, "hgnc_date_symbol_changed": "1993-05-25" }, "entity_type": "gene", "entity_name": "COL18A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27259167", "25456301", "30007336" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Knobloch syndrome, type 1, 267750 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1870", "MGC11337", "FLJ11895" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22986", "gene_name": "collagen type XXVII alpha 1 chain", "omim_gene": [ "608461" ], "alias_name": null, "gene_symbol": "COL27A1", "hgnc_symbol": "COL27A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:116917840-117074791", "ensembl_id": "ENSG00000196739" } }, "GRch38": { "90": { "location": "9:114155560-114312511", "ensembl_id": "ENSG00000196739" } } }, "hgnc_date_symbol_changed": "2003-08-12" }, "entity_type": "gene", "entity_name": "COL27A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32360765", "33963180" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Steel Syndrome, MIM#615155" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2204", "gene_name": "collagen type IV alpha 3 chain", "omim_gene": [ "120070" ], "alias_name": [ "tumstatin" ], "gene_symbol": "COL4A3", "hgnc_symbol": "COL4A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:228029281-228179508", "ensembl_id": "ENSG00000169031" } }, "GRch38": { "90": { "location": "2:227164565-227314792", "ensembl_id": "ENSG00000169031" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "COL4A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24052634", "35419377", "39071776" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Alport syndrome 3b, autosomal recessive MIM#620536", "MONDO:0957811" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CA44" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2206", "gene_name": "collagen type IV alpha 4 chain", "omim_gene": [ "120131" ], "alias_name": [ "collagen of basement membrane, alpha-4 chain" ], "gene_symbol": "COL4A4", "hgnc_symbol": "COL4A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:227867427-228028829", "ensembl_id": "ENSG00000081052" } }, "GRch38": { "90": { "location": "2:227002711-227164113", "ensembl_id": "ENSG00000081052" } } }, "hgnc_date_symbol_changed": "1992-06-25" }, "entity_type": "gene", "entity_name": "COL4A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301386" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Alport syndrome, autosomal recessive, 203780 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2207", "gene_name": "collagen type IV alpha 5 chain", "omim_gene": [ "303630" ], "alias_name": null, "gene_symbol": "COL4A5", "hgnc_symbol": "COL4A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:107683074-107940775", "ensembl_id": "ENSG00000188153" } }, "GRch38": { "90": { "location": "X:108439844-108697545", "ensembl_id": "ENSG00000188153" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL4A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "36531881", "19965530", "36341250" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Alport syndrome 1, X-linked, MIM#301050" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2211", "gene_name": "collagen type VI alpha 1 chain", "omim_gene": [ "120220" ], "alias_name": null, "gene_symbol": "COL6A1", "hgnc_symbol": "COL6A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:47401651-47424964", "ensembl_id": "ENSG00000142156" } }, "GRch38": { "90": { "location": "21:45981737-46005050", "ensembl_id": "ENSG00000142156" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL6A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301676", "25535305", "15955946", "23738969", "29277723", "24443028" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ullrich congenital muscular dystrophy 1, 254090 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2212", "gene_name": "collagen type VI alpha 2 chain", "omim_gene": [ "120240" ], "alias_name": null, "gene_symbol": "COL6A2", "hgnc_symbol": "COL6A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:47518011-47552763", "ensembl_id": "ENSG00000142173" } }, "GRch38": { "90": { "location": "21:46098097-46132849", "ensembl_id": "ENSG00000142173" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL6A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bethlem myopathy 1B, MIM# 620725", "Ullrich congenital muscular dystrophy 1B, MIM# 620727" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2213", "gene_name": "collagen type VI alpha 3 chain", "omim_gene": [ "120250" ], "alias_name": null, "gene_symbol": "COL6A3", "hgnc_symbol": "COL6A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:238232646-238323018", "ensembl_id": "ENSG00000163359" } }, "GRch38": { "90": { "location": "2:237324003-237414375", "ensembl_id": "ENSG00000163359" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL6A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301676", "37082441" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ullrich congenital muscular dystrophy 1, MIM#254090" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:2214", "gene_name": "collagen type VII alpha 1 chain", "omim_gene": [ "120120" ], "alias_name": [ "collagen VII, alpha-1 polypeptide", "LC collagen" ], "gene_symbol": "COL7A1", "hgnc_symbol": "COL7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48601506-48632700", "ensembl_id": "ENSG00000114270" } }, "GRch38": { "90": { "location": "3:48564073-48595267", "ensembl_id": "ENSG00000114270" } } }, "hgnc_date_symbol_changed": "1991-11-01" }, "entity_type": "gene", "entity_name": "COL7A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31670143", "32506467", "25639640" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Epidermolysis bullosa dystrophica, MIM#226600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC3279", "CL-K1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17213", "gene_name": "collectin subfamily member 11", "omim_gene": [ "612502" ], "alias_name": [ "Collectin K1" ], "gene_symbol": "COLEC11", "hgnc_symbol": "COLEC11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:3642426-3692048", "ensembl_id": "ENSG00000118004" } }, "GRch38": { "90": { "location": "2:3594832-3644644", "ensembl_id": "ENSG00000118004" } } }, "hgnc_date_symbol_changed": "2001-11-20" }, "entity_type": "gene", "entity_name": "COLEC11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21258343", "26789649", "28301481" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "3MC syndrome 2, MIM# 265050", "MONDO:0009927" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2226", "gene_name": "collagen like tail subunit of asymmetric acetylcholinesterase", "omim_gene": [ "603033" ], "alias_name": [ "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen" ], "gene_symbol": "COLQ", "hgnc_symbol": "COLQ", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:15491640-15563258", "ensembl_id": "ENSG00000206561" } }, "GRch38": { "90": { "location": "3:15450133-15521751", "ensembl_id": "ENSG00000206561" } } }, "hgnc_date_symbol_changed": "1998-09-14" }, "entity_type": "gene", "entity_name": "COLQ", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9689136", "9758617", "11865139", "32978031", "31831253", "29478601", "23995276", "36835142" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Myasthenic syndrome, congenital, 5 MIM#603034", "MONDO:0011281" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CL640", "FLJ26072" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25223", "gene_name": "coenzyme Q2, polyprenyltransferase", "omim_gene": [ "609825" ], "alias_name": [ "4-hydroxybenzoate polyprenyltransferase" ], "gene_symbol": "COQ2", "hgnc_symbol": "COQ2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:84182689-84206067", "ensembl_id": "ENSG00000173085" } }, "GRch38": { "90": { "location": "4:83261536-83284914", "ensembl_id": "ENSG00000173085" } } }, "hgnc_date_symbol_changed": "2005-07-05" }, "entity_type": "gene", "entity_name": "COQ2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16400613", "17855635", "17332895" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 1, 607426 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGI-92" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19693", "gene_name": "coenzyme Q4", "omim_gene": [ "612898" ], "alias_name": null, "gene_symbol": "COQ4", "hgnc_symbol": "COQ4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131084815-131096351", "ensembl_id": "ENSG00000167113" } }, "GRch38": { "90": { "location": "9:128322536-128334072", "ensembl_id": "ENSG00000167113" } } }, "hgnc_date_symbol_changed": "2003-01-10" }, "entity_type": "gene", "entity_name": "COQ4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, 7, 616276 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3861, "hash_id": null, "name": "Prepair 1000+", "disease_group": "Screening", "disease_sub_group": "", "description": "This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.", "status": "public", "version": "2.16", "version_created": "2026-04-02T17:30:09.498472+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 1389, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null } ] }