Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=317
{ "count": 35518, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=318", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=316", "results": [ { "gene_data": { "alias": [ "ACHP", "FLJ11665", "ZRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13243", "gene_name": "limb development membrane protein 1", "omim_gene": [ "605522" ], "alias_name": null, "gene_symbol": "LMBR1", "hgnc_symbol": "LMBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:156461646-156685924", "ensembl_id": "ENSG00000105983" } }, "GRch38": { "90": { "location": "7:156668946-156893230", "ensembl_id": "ENSG00000105983" } } }, "hgnc_date_symbol_changed": "2005-07-25" }, "entity_type": "gene", "entity_name": "LMBR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11090342", "10780921", "33863876" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Acheiropody, MIM #200500" ], "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": [ "FLJ11240", "bA810I22.1", "cblF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23038", "gene_name": "LMBR1 domain containing 1", "omim_gene": [ "612625" ], "alias_name": null, "gene_symbol": "LMBRD1", "hgnc_symbol": "LMBRD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:70385694-70507003", "ensembl_id": "ENSG00000168216" } }, "GRch38": { "90": { "location": "6:69675802-69797111", "ensembl_id": "ENSG00000168216" } } }, "hgnc_date_symbol_changed": "2005-07-25" }, "entity_type": "gene", "entity_name": "LMBRD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19136951" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380" ], "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": [ "HGPS", "MADA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6636", "gene_name": "lamin A/C", "omim_gene": [ "150330" ], "alias_name": [ "mandibuloacral dysplasia type A" ], "gene_symbol": "LMNA", "hgnc_symbol": "LMNA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156052364-156109880", "ensembl_id": "ENSG00000160789" } }, "GRch38": { "90": { "location": "1:156082573-156140089", "ensembl_id": "ENSG00000160789" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "LMNA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15148145", "18551513", "17377071" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mandibuloacral dysplasia, MIM# 248370" ], "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:6649", "gene_name": "leiomodin 3", "omim_gene": [ "616112" ], "alias_name": null, "gene_symbol": "LMOD3", "hgnc_symbol": "LMOD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:69156023-69172183", "ensembl_id": "ENSG00000163380" } }, "GRch38": { "90": { "location": "3:69106872-69123032", "ensembl_id": "ENSG00000163380" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "LMOD3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25250574", "28815944", "30291184" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Nemaline myopathy 10, MIM#616165" ], "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": [ "LonHS", "hLON", "PIM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9479", "gene_name": "lon peptidase 1, mitochondrial", "omim_gene": [ "605490" ], "alias_name": null, "gene_symbol": "LONP1", "hgnc_symbol": "LONP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:5691845-5720583", "ensembl_id": "ENSG00000196365" } }, "GRch38": { "90": { "location": "19:5691834-5720572", "ensembl_id": "ENSG00000196365" } } }, "hgnc_date_symbol_changed": "2006-10-20" }, "entity_type": "gene", "entity_name": "LONP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31636596" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "CODAS syndrome, MIM#600373" ], "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": [ "KIAA0188" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13345", "gene_name": "lipin 1", "omim_gene": [ "605518" ], "alias_name": null, "gene_symbol": "LPIN1", "hgnc_symbol": "LPIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:11817721-11967535", "ensembl_id": "ENSG00000134324" } }, "GRch38": { "90": { "location": "2:11677595-11827409", "ensembl_id": "ENSG00000134324" } } }, "hgnc_date_symbol_changed": "2001-01-24" }, "entity_type": "gene", "entity_name": "LPIN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18817903", "32549891" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200" ], "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": [ "KIAA0249" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14450", "gene_name": "lipin 2", "omim_gene": [ "605519" ], "alias_name": null, "gene_symbol": "LPIN2", "hgnc_symbol": "LPIN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:2916992-3013313", "ensembl_id": "ENSG00000101577" } }, "GRch38": { "90": { "location": "18:2916994-3013315", "ensembl_id": "ENSG00000101577" } } }, "hgnc_date_symbol_changed": "2001-01-24" }, "entity_type": "gene", "entity_name": "LPIN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Majeed syndrome MIM#609628" ], "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:6677", "gene_name": "lipoprotein lipase", "omim_gene": [ "609708" ], "alias_name": null, "gene_symbol": "LPL", "hgnc_symbol": "LPL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:19759228-19824769", "ensembl_id": "ENSG00000175445" } }, "GRch38": { "90": { "location": "8:19901717-19967258", "ensembl_id": "ENSG00000175445" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LPL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Lipoprotein lipase deficiency MIM#238600" ], "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": [ "LCA14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6685", "gene_name": "lecithin retinol acyltransferase", "omim_gene": [ "604863" ], "alias_name": [ "phosphatidylcholine--retinol O-acyltransferase" ], "gene_symbol": "LRAT", "hgnc_symbol": "LRAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:155548097-155674270", "ensembl_id": "ENSG00000121207" } }, "GRch38": { "90": { "location": "4:154626945-154753118", "ensembl_id": "ENSG00000121207" } } }, "hgnc_date_symbol_changed": "1999-02-16" }, "entity_type": "gene", "entity_name": "LRAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11381255", "18055821", "22570351", "29973277", "24625443", "31448181" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Retinal dystrophy, early-onset severe", "Leber congenital amaurosis 14", "Retinitis pigmentosa, juvenile, all under MIM #613341" ], "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": [ "BGL", "LAB300", "LBA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1742", "gene_name": "LPS responsive beige-like anchor protein", "omim_gene": [ "606453" ], "alias_name": null, "gene_symbol": "LRBA", "hgnc_symbol": "LRBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:151185594-151936879", "ensembl_id": "ENSG00000198589" } }, "GRch38": { "90": { "location": "4:150264531-151015727", "ensembl_id": "ENSG00000198589" } } }, "hgnc_date_symbol_changed": "2001-10-05" }, "entity_type": "gene", "entity_name": "LRBA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22608502", "22721650", "25468195", "26206937", "33155142" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency, common variable, 8, with autoimmunity MIM#614700" ], "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": [ "KIAA0806" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20889", "gene_name": "leucine rich repeats and immunoglobulin like domains 2", "omim_gene": [ "608869" ], "alias_name": null, "gene_symbol": "LRIG2", "hgnc_symbol": "LRIG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:113615831-113674882", "ensembl_id": "ENSG00000198799" } }, "GRch38": { "90": { "location": "1:113073209-113132260", "ensembl_id": "ENSG00000198799" } } }, "hgnc_date_symbol_changed": "2003-04-25" }, "entity_type": "gene", "entity_name": "LRIG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23313374", "30885509", "23967498" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Urofacial syndrome 2, MIM #615112" ], "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": [ "CDA017", "OCA7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23405", "gene_name": "leucine rich melanocyte differentiation associated", "omim_gene": [ "614537" ], "alias_name": [ "oculocutaneous albinism 7, autosomal recessive" ], "gene_symbol": "LRMDA", "hgnc_symbol": "LRMDA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:77360998-78319925", "ensembl_id": "ENSG00000148655" } }, "GRch38": { "90": { "location": "10:75431453-76560167", "ensembl_id": "ENSG00000148655" } } }, "hgnc_date_symbol_changed": "2017-04-05" }, "entity_type": "gene", "entity_name": "LRMDA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "37053367", "23395477", "38555393" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Albinism, oculocutaneous, type VII MIM#615179", "MONDO:0014070" ], "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": [ "gp330", "DBS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6694", "gene_name": "LDL receptor related protein 2", "omim_gene": [ "600073" ], "alias_name": [ "megalin" ], "gene_symbol": "LRP2", "hgnc_symbol": "LRP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:169983619-170219195", "ensembl_id": "ENSG00000081479" } }, "GRch38": { "90": { "location": "2:169127109-169362685", "ensembl_id": "ENSG00000081479" } } }, "hgnc_date_symbol_changed": "1994-05-04" }, "entity_type": "gene", "entity_name": "LRP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17632512", "20301732" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Donnai-Barrow syndrome, MIM #222448" ], "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": [ "MEGF7", "CLSS", "LRP-4", "SOST2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6696", "gene_name": "LDL receptor related protein 4", "omim_gene": [ "604270" ], "alias_name": null, "gene_symbol": "LRP4", "hgnc_symbol": "LRP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:46878419-46940193", "ensembl_id": "ENSG00000134569" } }, "GRch38": { "90": { "location": "11:46856868-46918642", "ensembl_id": "ENSG00000134569" } } }, "hgnc_date_symbol_changed": "1998-03-25" }, "entity_type": "gene", "entity_name": "LRP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23636941", "20381006", "23664847", "30041615" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cenani-Lenz syndactyly syndrome, MIM #212780" ], "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": [ "LR3", "BMND1", "HBM", "OPS", "OPTA1", "VBCH2", "EVR4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6697", "gene_name": "LDL receptor related protein 5", "omim_gene": [ "603506" ], "alias_name": null, "gene_symbol": "LRP5", "hgnc_symbol": "LRP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:68080077-68216743", "ensembl_id": "ENSG00000162337" } }, "GRch38": { "90": { "location": "11:68312609-68449275", "ensembl_id": "ENSG00000162337" } } }, "hgnc_date_symbol_changed": "1998-04-07" }, "entity_type": "gene", "entity_name": "LRP5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9056564", "9831343", "11719191", "15346351", "18602879" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Exudative vitreoretinopathy 4 MIM#601813", "Osteoporosis-pseudoglioma syndrome MIM#259770" ], "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": [ "GP130", "LRP130" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15714", "gene_name": "leucine rich pentatricopeptide repeat containing", "omim_gene": [ "607544" ], "alias_name": null, "gene_symbol": "LRPPRC", "hgnc_symbol": "LRPPRC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:44113647-44223144", "ensembl_id": "ENSG00000138095" } }, "GRch38": { "90": { "location": "2:43886508-43996005", "ensembl_id": "ENSG00000138095" } } }, "hgnc_date_symbol_changed": "2001-06-04" }, "entity_type": "gene", "entity_name": "LRPPRC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12529507", "12529507", "26510951", "21266382" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111" ], "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": [ "TSLRP", "LRTP", "CILD19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16725", "gene_name": "leucine rich repeat containing 6", "omim_gene": [ "614930" ], "alias_name": [ "leucine rich testes protein" ], "gene_symbol": "LRRC6", "hgnc_symbol": "LRRC6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:133584320-133687838", "ensembl_id": "ENSG00000129295" } }, "GRch38": { "90": { "location": "8:132571953-132675617", "ensembl_id": "ENSG00000129295" } } }, "hgnc_date_symbol_changed": "2004-07-09" }, "entity_type": "gene", "entity_name": "LRRC6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23122589", "23891469", "32622824", "29511670", "38934611", "33577779", "39004944", "31624012" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Ciliary dyskinesia, primary, 19, 614935 (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": [ "FLJ31641", "CMT2P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25135", "gene_name": "leucine rich repeat and sterile alpha motif containing 1", "omim_gene": [ "610933" ], "alias_name": null, "gene_symbol": "LRSAM1", "hgnc_symbol": "LRSAM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:130213765-130265780", "ensembl_id": "ENSG00000148356" } }, "GRch38": { "90": { "location": "9:127451486-127503501", "ensembl_id": "ENSG00000148356" } } }, "hgnc_date_symbol_changed": "2003-12-19" }, "entity_type": "gene", "entity_name": "LRSAM1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38330802", "33568173" ], "evidence": [ "Expert Review Amber", "Mackenzie's Mission" ], "phenotypes": [ "Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (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:6716", "gene_name": "latent transforming growth factor beta binding protein 3", "omim_gene": [ "602090" ], "alias_name": null, "gene_symbol": "LTBP3", "hgnc_symbol": "LTBP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65306276-65326401", "ensembl_id": "ENSG00000168056" } }, "GRch38": { "90": { "location": "11:65538805-65558930", "ensembl_id": "ENSG00000168056" } } }, "hgnc_date_symbol_changed": "1995-05-11" }, "entity_type": "gene", "entity_name": "LTBP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "38192829", "19344874", "25899461", "25669657", "29625025" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Dental anomalies and short stature, MIM #601216" ], "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": [ "LTBP-4", "LTBP-4L", "FLJ46318", "FLJ90018" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6717", "gene_name": "latent transforming growth factor beta binding protein 4", "omim_gene": [ "604710" ], "alias_name": null, "gene_symbol": "LTBP4", "hgnc_symbol": "LTBP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41098789-41135725", "ensembl_id": "ENSG00000090006" } }, "GRch38": { "90": { "location": "19:40592883-40629818", "ensembl_id": "ENSG00000090006" } } }, "hgnc_date_symbol_changed": "1998-11-18" }, "entity_type": "gene", "entity_name": "LTBP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26866239", "22829427", "19836010" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Cutis laxa, autosomal recessive, type IC, #613177" ], "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": [ "FLJ20796", "MZM1L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28072", "gene_name": "LYR motif containing 7", "omim_gene": [ "615831" ], "alias_name": null, "gene_symbol": "LYRM7", "hgnc_symbol": "LYRM7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:130506503-130541119", "ensembl_id": "ENSG00000186687" } }, "GRch38": { "90": { "location": "5:131170810-131205426", "ensembl_id": "ENSG00000186687" } } }, "hgnc_date_symbol_changed": "2006-10-17" }, "entity_type": "gene", "entity_name": "LYRM7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26912632", "24014394" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mitochondrial complex III deficiency, nuclear type 8, MIM#615838, 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": [ "CHS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1968", "gene_name": "lysosomal trafficking regulator", "omim_gene": [ "606897" ], "alias_name": null, "gene_symbol": "LYST", "hgnc_symbol": "LYST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:235824341-236046940", "ensembl_id": "ENSG00000143669" } }, "GRch38": { "90": { "location": "1:235661041-235883640", "ensembl_id": "ENSG00000143669" } } }, "hgnc_date_symbol_changed": "2004-12-10" }, "entity_type": "gene", "entity_name": "LYST", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8896560", "9215680", "31906877", "9215679", "26499269", "24112114", "28145517" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Chediak-Higashi syndrome MIM#214500" ], "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": [ "BBS17" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6741", "gene_name": "leucine zipper transcription factor like 1", "omim_gene": [ "606568" ], "alias_name": null, "gene_symbol": "LZTFL1", "hgnc_symbol": "LZTFL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:45864808-45957534", "ensembl_id": "ENSG00000163818" } }, "GRch38": { "90": { "location": "3:45823316-45916042", "ensembl_id": "ENSG00000163818" } } }, "hgnc_date_symbol_changed": "2000-06-16" }, "entity_type": "gene", "entity_name": "LZTFL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22510444", "23692385", "27312011", "22072986", "38801250", "32686083", "37239474" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Bardet-Biedl syndrome 17 MIM#615994", "MONDO:0014445" ], "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": [ "PCASP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6819", "gene_name": "MALT1 paracaspase", "omim_gene": [ "604860" ], "alias_name": [ "MALT1 protease", "paracaspase 1" ], "gene_symbol": "MALT1", "hgnc_symbol": "MALT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:56338618-56417371", "ensembl_id": "ENSG00000172175" } }, "GRch38": { "90": { "location": "18:58671386-58754477", "ensembl_id": "ENSG00000172175" } } }, "hgnc_date_symbol_changed": "1999-08-02" }, "entity_type": "gene", "entity_name": "MALT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "3727036", "24332264", "14576442", "31037583" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Immunodeficiency 12 MIM#615468" ], "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": [ "MANA-ER", "MRT15", "ERManI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6823", "gene_name": "mannosidase alpha class 1B member 1", "omim_gene": [ "604346" ], "alias_name": [ "endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase", "endoplasmic Reticulum Class I alpha-mannosidase" ], "gene_symbol": "MAN1B1", "hgnc_symbol": "MAN1B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139981379-140003635", "ensembl_id": "ENSG00000177239" } }, "GRch38": { "90": { "location": "9:137086927-137109187", "ensembl_id": "ENSG00000177239" } } }, "hgnc_date_symbol_changed": "1999-09-28" }, "entity_type": "gene", "entity_name": "MAN1B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21763484", "26279649", "20345473" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Rafiq syndrome, MIM# 614202" ], "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": [ "LAMAN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6826", "gene_name": "mannosidase alpha class 2B member 1", "omim_gene": [ "609458" ], "alias_name": null, "gene_symbol": "MAN2B1", "hgnc_symbol": "MAN2B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:12757325-12777556", "ensembl_id": "ENSG00000104774" } }, "GRch38": { "90": { "location": "19:12646511-12666742", "ensembl_id": "ENSG00000104774" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MAN2B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20301570" ], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mannosidosis, alpha-, types I and II, 248500 (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:6831", "gene_name": "mannosidase beta", "omim_gene": [ "609489" ], "alias_name": [ "beta-mannosidase A" ], "gene_symbol": "MANBA", "hgnc_symbol": "MANBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:103552660-103682151", "ensembl_id": "ENSG00000109323" } }, "GRch38": { "90": { "location": "4:102631488-102760994", "ensembl_id": "ENSG00000109323" } } }, "hgnc_date_symbol_changed": "1990-05-25" }, "entity_type": "gene", "entity_name": "MANBA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Mackenzie's Mission" ], "phenotypes": [ "Mannosidosis, beta, MIM#248510" ], "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": [ "ZNRP", "BOV-1A", "BOV-1B", "BOV-1C", "RBM8B", "Y14" ], "biotype": null, "hgnc_id": "HGNC:9905", "gene_name": "RNA binding motif protein 8A", "omim_gene": [ "605313" ], "alias_name": null, "gene_symbol": "RBM8A", "hgnc_symbol": "RBM8A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:145507598-145513536", "ensembl_id": "ENSG00000131795" } }, "GRch38": { "90": { "location": "1:145917714-145927678", "ensembl_id": "ENSG00000265241" } } }, "hgnc_date_symbol_changed": "1999-05-05" }, "entity_type": "gene", "entity_name": "RBM8A", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22366785", "17236129", "26550033", "32227665" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Thrombocytopenia-absent radius syndrome MIM#274000" ], "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": [ "SCOT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8527", "gene_name": "3-oxoacid CoA-transferase 1", "omim_gene": [ "601424" ], "alias_name": null, "gene_symbol": "OXCT1", "hgnc_symbol": "OXCT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:41730167-41870621", "ensembl_id": "ENSG00000083720" } }, "GRch38": { "90": { "location": "5:41730065-41870519", "ensembl_id": "ENSG00000083720" } } }, "hgnc_date_symbol_changed": "2004-05-12" }, "entity_type": "gene", "entity_name": "OXCT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30799594", "20652411", "25778941", "10964512", "8751852", "23420214" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050" ], "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": [ "FLJ34884" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25118", "gene_name": "OTU deubiquitinase with linear linkage specificity", "omim_gene": [ "615712" ], "alias_name": [ "gumby" ], "gene_symbol": "OTULIN", "hgnc_symbol": "OTULIN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:14664773-14699820", "ensembl_id": "ENSG00000154124" } }, "GRch38": { "90": { "location": "5:14664664-14699711", "ensembl_id": "ENSG00000154124" } } }, "hgnc_date_symbol_changed": "2014-03-11" }, "entity_type": "gene", "entity_name": "OTULIN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27523608", "27559085", "30796585", "35170849" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099" ], "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": [ "FLJ10486", "mtPAP", "SPAX4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25532", "gene_name": "mitochondrial poly(A) polymerase", "omim_gene": [ "613669" ], "alias_name": [ "TUTase1" ], "gene_symbol": "MTPAP", "hgnc_symbol": "MTPAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:30598730-30663377", "ensembl_id": "ENSG00000107951" } }, "GRch38": { "90": { "location": "10:30309801-30374448", "ensembl_id": "ENSG00000107951" } } }, "hgnc_date_symbol_changed": "2009-01-12" }, "entity_type": "gene", "entity_name": "MTPAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20970105", "33340416", "32376682", "15769737", "31779033", "35235001", "27391121" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial disease MONDO:0044970" ], "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:15594", "gene_name": "debranching RNA lariats 1", "omim_gene": [ "607024" ], "alias_name": null, "gene_symbol": "DBR1", "hgnc_symbol": "DBR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:137879854-137893791", "ensembl_id": "ENSG00000138231" } }, "GRch38": { "90": { "location": "3:138161012-138174949", "ensembl_id": "ENSG00000138231" } } }, "hgnc_date_symbol_changed": "2001-04-26" }, "entity_type": "gene", "entity_name": "DBR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37656279", "29474921", "38325642" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510" ], "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": [ "POLE1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9177", "gene_name": "DNA polymerase epsilon, catalytic subunit", "omim_gene": [ "174762" ], "alias_name": [ "DNA polymerase epsilon catalytic subunit A" ], "gene_symbol": "POLE", "hgnc_symbol": "POLE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:133200348-133263951", "ensembl_id": "ENSG00000177084" } }, "GRch38": { "90": { "location": "12:132623753-132687365", "ensembl_id": "ENSG00000177084" } } }, "hgnc_date_symbol_changed": "1992-02-06" }, "entity_type": "gene", "entity_name": "POLE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30503519", "23230001", "25948378", "36071887" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "IMAGE-I syndrome\tMIM#618336", "FILS syndrome\tMIM#615139" ], "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": [ "AT1", "AT2R1", "AGTR1A", "AT2R1A", "HAT1R", "AG2S", "AT2R1B", "AT1B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:336", "gene_name": "angiotensin II receptor type 1", "omim_gene": [ "106165" ], "alias_name": null, "gene_symbol": "AGTR1", "hgnc_symbol": "AGTR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:148415571-148460795", "ensembl_id": "ENSG00000144891" } }, "GRch38": { "90": { "location": "3:148697784-148743008", "ensembl_id": "ENSG00000144891" } } }, "hgnc_date_symbol_changed": "1992-08-25" }, "entity_type": "gene", "entity_name": "AGTR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16116425", "22095942" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Renal tubular dysgenesis MIM#267430" ], "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:10603", "gene_name": "SCO1, cytochrome c oxidase assembly protein", "omim_gene": [ "603644" ], "alias_name": null, "gene_symbol": "SCO1", "hgnc_symbol": "SCO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:10583654-10601692", "ensembl_id": "ENSG00000133028" } }, "GRch38": { "90": { "location": "17:10672474-10698375", "ensembl_id": "ENSG00000133028" } } }, "hgnc_date_symbol_changed": "1998-07-03" }, "entity_type": "gene", "entity_name": "SCO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11013136", "19295170", "31352446", "23878101" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Mitochondrial disease MONDO:0044970", "Mitochondrial complex IV deficiency, nuclear type 4 MIM#619048" ], "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": [ "PDC-E2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2896", "gene_name": "dihydrolipoamide S-acetyltransferase", "omim_gene": [ "608770" ], "alias_name": [ "E2 component of pyruvate dehydrogenase complex" ], "gene_symbol": "DLAT", "hgnc_symbol": "DLAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:111895538-111935114", "ensembl_id": "ENSG00000150768" } }, "GRch38": { "90": { "location": "11:112024814-112064390", "ensembl_id": "ENSG00000150768" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "DLAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34138529", "16049940", "20022530", "29093066" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Leigh syndrome MONDO:0009723", "Pyruvate dehydrogenase E2 deficiency MIM#245348" ], "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": [ "APCL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24036", "gene_name": "APC2, WNT signaling pathway regulator", "omim_gene": [ "612034" ], "alias_name": [ "adenomatous polyposis coli like" ], "gene_symbol": "APC2", "hgnc_symbol": "APC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:1446300-1473243", "ensembl_id": "ENSG00000115266" } }, "GRch38": { "90": { "location": "19:1446302-1473244", "ensembl_id": "ENSG00000115266" } } }, "hgnc_date_symbol_changed": "2004-03-18" }, "entity_type": "gene", "entity_name": "APC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31585108" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 10 MIM#618677", "Intellectual developmental disorder, autosomal recessive 74 MIM#617169", "Lissencephaly spectrum disorders MONDO:0018838" ], "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": [ "MGC15668", "4-HPPD-L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28242", "gene_name": "4-hydroxyphenylpyruvate dioxygenase like", "omim_gene": null, "alias_name": null, "gene_symbol": "HPDL", "hgnc_symbol": "HPDL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:45792545-45794347", "ensembl_id": "ENSG00000186603" } }, "GRch38": { "90": { "location": "1:45326905-45328533", "ensembl_id": "ENSG00000186603" } } }, "hgnc_date_symbol_changed": "2007-03-14" }, "entity_type": "gene", "entity_name": "HPDL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026", "Spastic paraplegia 83, autosomal recessive MIM#619027", "Leigh syndrome MONDO:0009723" ], "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": [ "PRO19563" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18053", "gene_name": "polycystin 1 like 1, transient receptor potential channel interacting", "omim_gene": [ "609721" ], "alias_name": [ "polycystin-1L1" ], "gene_symbol": "PKD1L1", "hgnc_symbol": "PKD1L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:47814250-47988088", "ensembl_id": "ENSG00000158683" } }, "GRch38": { "90": { "location": "7:47774652-47948491", "ensembl_id": "ENSG00000158683" } } }, "hgnc_date_symbol_changed": "2002-03-21" }, "entity_type": "gene", "entity_name": "PKD1L1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33655537", "PMID: 27616478" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Heterotaxy, visceral, 8, autosomal\tMIM#617205" ], "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": [] }, { "gene_data": { "alias": [ "E3BP", "proX", "PDX1", "OPDX", "DLDBP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21350", "gene_name": "pyruvate dehydrogenase complex component X", "omim_gene": [ "608769" ], "alias_name": null, "gene_symbol": "PDHX", "hgnc_symbol": "PDHX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:34937376-35042138", "ensembl_id": "ENSG00000110435" } }, "GRch38": { "90": { "location": "11:34915829-35020591", "ensembl_id": "ENSG00000110435" } } }, "hgnc_date_symbol_changed": "2003-06-24" }, "entity_type": "gene", "entity_name": "PDHX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20002125", "34873726", "33092611", "30981218", "25087164", "22766002", "12557299", "14518830", "15303005", "16566017", "27343776" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lacticacidemia due to PDX1 deficiency MIM#245349", "Mitochondrial disease MONDO:0044970" ], "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": [ "KIAA0047", "CHMP1", "Vps46A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8740", "gene_name": "charged multivesicular body protein 1A", "omim_gene": [ "164010" ], "alias_name": null, "gene_symbol": "CHMP1A", "hgnc_symbol": "CHMP1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89710839-89724253", "ensembl_id": "ENSG00000131165" } }, "GRch38": { "90": { "location": "16:89644431-89657845", "ensembl_id": "ENSG00000131165" } } }, "hgnc_date_symbol_changed": "2007-03-20" }, "entity_type": "gene", "entity_name": "CHMP1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23023333", "37789895" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 8\tMIM#614961" ], "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": [ "RPAC2", "RPA16", "RPO1-3", "RPA9", "MGC9850" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20422", "gene_name": "RNA polymerase I subunit D", "omim_gene": [ "613715" ], "alias_name": null, "gene_symbol": "POLR1D", "hgnc_symbol": "POLR1D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:28194903-28241548", "ensembl_id": "ENSG00000186184" } }, "GRch38": { "90": { "location": "13:27620742-27744237", "ensembl_id": "ENSG00000186184" } } }, "hgnc_date_symbol_changed": "2003-04-01" }, "entity_type": "gene", "entity_name": "POLR1D", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21131976", "24603435", "27448281", "25790162" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Treacher Collins syndrome 2 MIM#613717" ], "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": [ "HK33", "D1S2223E", "PMP1", "PMPI", "PXMP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9713", "gene_name": "peroxisomal biogenesis factor 19", "omim_gene": [ "600279" ], "alias_name": [ "housekeeping gene, 33kD" ], "gene_symbol": "PEX19", "hgnc_symbol": "PEX19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:160246602-160256138", "ensembl_id": "ENSG00000162735" } }, "GRch38": { "90": { "location": "1:160276812-160286348", "ensembl_id": "ENSG00000162735" } } }, "hgnc_date_symbol_changed": "2004-03-19" }, "entity_type": "gene", "entity_name": "PEX19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10051604", "20683989", "39757991", "21031596", "30561787", "36931687" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886", "Peroxisome biogenesis disorder MONDO:0019234" ], "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": [ "FLJ30570", "rd6", "NNO2", "C1QTNF5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18121", "gene_name": "membrane frizzled-related protein", "omim_gene": [ "606227" ], "alias_name": [ "membrane-type frizzled-related protein", "C1q and TNF related 5" ], "gene_symbol": "MFRP", "hgnc_symbol": "MFRP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:119209652-119217383", "ensembl_id": "ENSG00000235718" } }, "GRch38": { "90": { "location": "11:119338942-119346673", "ensembl_id": "ENSG00000235718" } } }, "hgnc_date_symbol_changed": "2002-02-25" }, "entity_type": "gene", "entity_name": "MFRP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17167404", "18554571", "20361016" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Microphthalmia, isolated 5, MIM# 611040" ], "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": [] }, { "gene_data": { "alias": [ "KIAA1890", "PPP1R24" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14026", "gene_name": "CUB and Sushi multiple domains 1", "omim_gene": [ "608397" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 24" ], "gene_symbol": "CSMD1", "hgnc_symbol": "CSMD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:2792875-4852494", "ensembl_id": "ENSG00000183117" } }, "GRch38": { "90": { "location": "8:2935353-4994972", "ensembl_id": "ENSG00000183117" } } }, "hgnc_date_symbol_changed": "2000-12-21" }, "entity_type": "gene", "entity_name": "CSMD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID:38816421" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "complex neurodevelopmental disorder MONDO:0100038" ], "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": [] }, { "gene_data": { "alias": [ "KIAA0233" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28993", "gene_name": "piezo type mechanosensitive ion channel component 1", "omim_gene": [ "611184" ], "alias_name": null, "gene_symbol": "PIEZO1", "hgnc_symbol": "PIEZO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:88781751-88851619", "ensembl_id": "ENSG00000103335" } }, "GRch38": { "90": { "location": "16:88715343-88785211", "ensembl_id": "ENSG00000103335" } } }, "hgnc_date_symbol_changed": "2011-08-31" }, "entity_type": "gene", "entity_name": "PIEZO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 26333996" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lymphatic malformation 6, MIM#616843" ], "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": [ "OF", "BACH1", "FANCJ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20473", "gene_name": "BRCA1 interacting protein C-terminal helicase 1", "omim_gene": [ "605882" ], "alias_name": [ "BRCA1/BRCA2-associated helicase 1" ], "gene_symbol": "BRIP1", "hgnc_symbol": "BRIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:59758627-59940882", "ensembl_id": "ENSG00000136492" } }, "GRch38": { "90": { "location": "17:61681266-61863521", "ensembl_id": "ENSG00000136492" } } }, "hgnc_date_symbol_changed": "2003-04-11" }, "entity_type": "gene", "entity_name": "BRIP1", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "Other", "publications": [ "16116423" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Fanconi Anaemia, complementation group J, MIM# 609054" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "for review" ], "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:10586", "gene_name": "sodium voltage-gated channel beta subunit 1", "omim_gene": [ "600235" ], "alias_name": null, "gene_symbol": "SCN1B", "hgnc_symbol": "SCN1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:35521588-35531352", "ensembl_id": "ENSG00000105711" } }, "GRch38": { "90": { "location": "19:35030466-35040449", "ensembl_id": "ENSG00000105711" } } }, "hgnc_date_symbol_changed": "1990-05-14" }, "entity_type": "gene", "entity_name": "SCN1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36291443", "31709768" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 52, MIM#617350" ], "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": [ "amnionless" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14604", "gene_name": "amnion associated transmembrane protein", "omim_gene": [ "605799" ], "alias_name": null, "gene_symbol": "AMN", "hgnc_symbol": "AMN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:103388993-103399933", "ensembl_id": "ENSG00000166126" } }, "GRch38": { "90": { "location": "14:102922656-102933596", "ensembl_id": "ENSG00000166126" } } }, "hgnc_date_symbol_changed": "2002-12-03" }, "entity_type": "gene", "entity_name": "AMN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12590260", "15024727", "17285242", "24156255", "26040326", "27604308" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Imerslund-Grasbeck syndrome 2 (MIM#618882)" ], "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": [ "KCS1", "pac2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11582", "gene_name": "tubulin folding cofactor E", "omim_gene": [ "604934" ], "alias_name": null, "gene_symbol": "TBCE", "hgnc_symbol": "TBCE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:235530675-235612283", "ensembl_id": "ENSG00000116957" } }, "GRch38": { "90": { "location": "1:235367360-235448968", "ensembl_id": "ENSG00000116957" } } }, "hgnc_date_symbol_changed": "1998-07-31" }, "entity_type": "gene", "entity_name": "TBCE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27666369" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009426" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3894, "hash_id": null, "name": "Familial hypoparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "1.13", "version_created": "2026-01-29T12:46:06.444681+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 8, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PTH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9606", "gene_name": "parathyroid hormone", "omim_gene": [ "168450" ], "alias_name": [ "parathyrin", "parathormone", "parathyroid hormone 1", "preproparathyroid hormone", "prepro-PTH" ], "gene_symbol": "PTH", "hgnc_symbol": "PTH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:13513602-13517728", "ensembl_id": "ENSG00000152266" } }, "GRch38": { "90": { "location": "11:13492055-13496181", "ensembl_id": "ENSG00000152266" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PTH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "2212001", "1302009", "10523031", "35165722", "32421798" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016000" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3894, "hash_id": null, "name": "Familial hypoparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "1.13", "version_created": "2026-01-29T12:46:06.444681+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 8, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FBH", "FBH2", "FHH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4379", "gene_name": "G protein subunit alpha 11", "omim_gene": [ "139313" ], "alias_name": null, "gene_symbol": "GNA11", "hgnc_symbol": "GNA11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:3094408-3124002", "ensembl_id": "ENSG00000088256" } }, "GRch38": { "90": { "location": "19:3094410-3124004", "ensembl_id": "ENSG00000088256" } } }, "hgnc_date_symbol_changed": "1992-07-20" }, "entity_type": "gene", "entity_name": "GNA11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "23802536", "23802516", "24823460", "26818911", "27334330" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "autosomal dominant hypocalcemia MONDO:0018543" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3894, "hash_id": null, "name": "Familial hypoparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "1.13", "version_created": "2026-01-29T12:46:06.444681+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 8, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hGCMb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4198", "gene_name": "glial cells missing homolog 2", "omim_gene": [ "603716" ], "alias_name": null, "gene_symbol": "GCM2", "hgnc_symbol": "GCM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:10873456-10882174", "ensembl_id": "ENSG00000124827" } }, "GRch38": { "90": { "location": "6:10873223-10881941", "ensembl_id": "ENSG00000124827" } } }, "hgnc_date_symbol_changed": "2002-09-27" }, "entity_type": "gene", "entity_name": "GCM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "35038313, 20190276" ], "evidence": [ "Expert Review Green", "NHS GMS", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypoparathyroidism, familial isolated 2, OMIM #618883" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3894, "hash_id": null, "name": "Familial hypoparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "1.13", "version_created": "2026-01-29T12:46:06.444681+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 8, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HDR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4172", "gene_name": "GATA binding protein 3", "omim_gene": [ "131320" ], "alias_name": null, "gene_symbol": "GATA3", "hgnc_symbol": "GATA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:8095567-8117161", "ensembl_id": "ENSG00000107485" } }, "GRch38": { "90": { "location": "10:8053604-8075198", "ensembl_id": "ENSG00000107485" } } }, "hgnc_date_symbol_changed": "1992-11-03" }, "entity_type": "gene", "entity_name": "GATA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10935639", "11389161", "21120445", "26316437", "25771973", 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"description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "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": null, "publications": [ "7916660", "7726161", "8675635", "17698911", "22620673", "26646938", "22422767" ], "evidence": [ "Expert Review Green", "NHS GMS" ], "phenotypes": [ "autosomal dominant hypocalcemia 1 MONDO:0011013" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3894, "hash_id": null, "name": "Familial hypoparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "1.13", "version_created": 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