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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12525"],"biotype":"protein_coding","hgnc_id":"HGNC:25726","gene_name":"LAS1 like, ribosome biogenesis factor","omim_gene":["300964"],"alias_name":null,"gene_symbol":"LAS1L","hgnc_symbol":"LAS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:64732462-64754655","ensembl_id":"ENSG00000001497"}},"GRch38":{"90":{"location":"X:65512582-65534775","ensembl_id":"ENSG00000001497"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"LAS1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25644381","34653234","26358559","24647030"],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Wilson-Turner syndrome, MIM# 309585"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6541","gene_name":"lactate dehydrogenase B","omim_gene":["150100"],"alias_name":null,"gene_symbol":"LDHB","hgnc_symbol":"LDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21788276-21910791","ensembl_id":"ENSG00000111716"}},"GRch38":{"90":{"location":"12:21635342-21757857","ensembl_id":"ENSG00000111716"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LDHB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["6383647"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Lactate dehydrogenase B deficiency, MIM# 614128"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARH","ARH2","FHCB1","FHCB2","MGC34705","DKFZp586D0624"],"biotype":"protein_coding","hgnc_id":"HGNC:18640","gene_name":"low density lipoprotein receptor adaptor protein 1","omim_gene":["605747"],"alias_name":null,"gene_symbol":"LDLRAP1","hgnc_symbol":"LDLRAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:25870071-25895377","ensembl_id":"ENSG00000157978"}},"GRch38":{"90":{"location":"1:25543580-25568886","ensembl_id":"ENSG00000157978"}}},"hgnc_date_symbol_changed":"2005-02-24"},"entity_type":"gene","entity_name":"LDLRAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["4351242"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypercholesterolemia, familial, 4, MIM# 603813"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6601","gene_name":"DNA ligase 4","omim_gene":["601837"],"alias_name":["polydeoxyribonucleotide synthase [ATP] 4","polynucleotide ligase","sealase","DNA repair enzyme","DNA joinase"],"gene_symbol":"LIG4","hgnc_symbol":"LIG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:108859787-108870716","ensembl_id":"ENSG00000174405"}},"GRch38":{"90":{"location":"13:108207439-108218368","ensembl_id":"ENSG00000174405"}}},"hgnc_date_symbol_changed":"1995-08-10"},"entity_type":"gene","entity_name":"LIG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11779494","16088910","15333585","20133615","37004747"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["LIG4 syndrome, MIM# 606593","DNA ligase IV deficiency, MONDO:0011686"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MP19","MP17"],"biotype":"protein_coding","hgnc_id":"HGNC:6610","gene_name":"lens intrinsic membrane protein 2","omim_gene":["154045"],"alias_name":null,"gene_symbol":"LIM2","hgnc_symbol":"LIM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51883163-51891214","ensembl_id":"ENSG00000105370"}},"GRch38":{"90":{"location":"19:51379909-51387960","ensembl_id":"ENSG00000105370"}}},"hgnc_date_symbol_changed":"1992-12-04"},"entity_type":"gene","entity_name":"LIM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27814360","11917274","18596884","33708862","32202185","21617753"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cataract 19, multiple types, MIM# 615277"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14594","LERN1"],"biotype":"protein_coding","hgnc_id":"HGNC:21205","gene_name":"leucine rich repeat and Ig domain containing 1","omim_gene":["609791"],"alias_name":null,"gene_symbol":"LINGO1","hgnc_symbol":"LINGO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:77905369-78113242","ensembl_id":"ENSG00000169783"}},"GRch38":{"90":{"location":"15:77613027-77820900","ensembl_id":"ENSG00000169783"}}},"hgnc_date_symbol_changed":"2007-02-01"},"entity_type":"gene","entity_name":"LINGO1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["31668702"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal recessive 64, MIM# 618103"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HL","HTGL"],"biotype":"protein_coding","hgnc_id":"HGNC:6619","gene_name":"lipase C, hepatic type","omim_gene":["151670"],"alias_name":["Triacylglycerol lipase"],"gene_symbol":"LIPC","hgnc_symbol":"LIPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:58702768-58861151","ensembl_id":"ENSG00000166035"}},"GRch38":{"90":{"location":"15:58410569-58569843","ensembl_id":"ENSG00000166035"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LIPC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1671786","12777476","1883393","23219720","26423094","22464213","22798447"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hepatic lipase deficiency MIM#614025","Hyperlipidemia due to hepatic triglyceride lipase deficiency, MONDO:0013533"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bA186O14.3"],"biotype":"protein_coding","hgnc_id":"HGNC:23452","gene_name":"lipase family member N","omim_gene":["613924"],"alias_name":null,"gene_symbol":"LIPN","hgnc_symbol":"LIPN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:90521163-90537999","ensembl_id":"ENSG00000204020"}},"GRch38":{"90":{"location":"10:88761406-88778242","ensembl_id":"ENSG00000204020"}}},"hgnc_date_symbol_changed":"2007-02-27"},"entity_type":"gene","entity_name":"LIPN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21439540"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 8, MIM# 613943"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:37216","gene_name":"lipoyl(octanoyl) transferase 2","omim_gene":["617659"],"alias_name":null,"gene_symbol":"LIPT2","hgnc_symbol":"LIPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:74202757-74204778","ensembl_id":"ENSG00000175536"}},"GRch38":{"90":{"location":"11:74491712-74493733","ensembl_id":"ENSG00000175536"}}},"hgnc_date_symbol_changed":"2009-09-09"},"entity_type":"gene","entity_name":"LIPT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28757203"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PIG7","SIMPLE","FLJ38636","TP53I7"],"biotype":"protein_coding","hgnc_id":"HGNC:16841","gene_name":"lipopolysaccharide induced TNF factor","omim_gene":["603795"],"alias_name":null,"gene_symbol":"LITAF","hgnc_symbol":"LITAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:11641853-11730237","ensembl_id":"ENSG00000189067"}},"GRch38":{"90":{"location":"16:11547722-11636381","ensembl_id":"ENSG00000189067"}}},"hgnc_date_symbol_changed":"2003-03-14"},"entity_type":"gene","entity_name":"LITAF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12525712","19541485","23359569","32665875","28211240"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease, type 1C, MIM# 601098","MONDO:0010995"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Lgl1","Mgl1"],"biotype":"protein_coding","hgnc_id":"HGNC:6628","gene_name":"LLGL1, scribble cell polarity complex component","omim_gene":["600966"],"alias_name":null,"gene_symbol":"LLGL1","hgnc_symbol":"LLGL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18128901-18148189","ensembl_id":"ENSG00000131899"}},"GRch38":{"90":{"location":"17:18225587-18244875","ensembl_id":"ENSG00000131899"}}},"hgnc_date_symbol_changed":"1995-09-12"},"entity_type":"gene","entity_name":"LLGL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MR60","ERGIC-53","ERGIC53","gp58","MCFD1","FMFD1"],"biotype":"protein_coding","hgnc_id":"HGNC:6631","gene_name":"lectin, mannose binding 1","omim_gene":["601567"],"alias_name":["endoplasmic reticulum-golgi intermediate compartment protein 53"],"gene_symbol":"LMAN1","hgnc_symbol":"LMAN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56995055-57027194","ensembl_id":"ENSG00000074695"}},"GRch38":{"90":{"location":"18:59327823-59359962","ensembl_id":"ENSG00000074695"}}},"hgnc_date_symbol_changed":"1996-06-06"},"entity_type":"gene","entity_name":"LMAN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9546392","16304051"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined factor V and VIII deficiency, MIM# 227300","MONDO:0009206"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32670","LH2D1"],"biotype":"protein_coding","hgnc_id":"HGNC:26521","gene_name":"lipoxygenase homology domains 1","omim_gene":["613072"],"alias_name":null,"gene_symbol":"LOXHD1","hgnc_symbol":"LOXHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:44056935-44236996","ensembl_id":"ENSG00000167210"}},"GRch38":{"90":{"location":"18:46476972-46657033","ensembl_id":"ENSG00000167210"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"LOXHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21465660","19732867","25792669"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 77, MIM# 613079"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LOXL","LOL"],"biotype":"protein_coding","hgnc_id":"HGNC:6665","gene_name":"lysyl oxidase like 1","omim_gene":["153456"],"alias_name":null,"gene_symbol":"LOXL1","hgnc_symbol":"LOXL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74218330-74244478","ensembl_id":"ENSG00000129038"}},"GRch38":{"90":{"location":"15:73925989-73952137","ensembl_id":"ENSG00000129038"}}},"hgnc_date_symbol_changed":"1993-12-08"},"entity_type":"gene","entity_name":"LOXL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Exfoliation syndrome, susceptibility to, MIM#177650"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P2Y5"],"biotype":"protein_coding","hgnc_id":"HGNC:15520","gene_name":"lysophosphatidic acid receptor 6","omim_gene":["609239"],"alias_name":null,"gene_symbol":"LPAR6","hgnc_symbol":"LPAR6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:48963707-49018840","ensembl_id":"ENSG00000139679"}},"GRch38":{"90":{"location":"13:48389567-48444704","ensembl_id":"ENSG00000139679"}}},"hgnc_date_symbol_changed":"2009-06-23"},"entity_type":"gene","entity_name":"LPAR6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"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","32522502","32410653"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"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","27855655","30885509"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Urofacial syndrome 2, MIM# 615112"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"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":["23395477"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Albinism, oculocutaneous, type VII, MIM# 615179","MONDO:0014070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LRP","CD91","LRP1A","APOER"],"biotype":"protein_coding","hgnc_id":"HGNC:6692","gene_name":"LDL receptor related protein 1","omim_gene":["107770"],"alias_name":null,"gene_symbol":"LRP1","hgnc_symbol":"LRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57522276-57607134","ensembl_id":"ENSG00000123384"}},"GRch38":{"90":{"location":"12:57128493-57213351","ensembl_id":"ENSG00000123384"}}},"hgnc_date_symbol_changed":"1991-08-21"},"entity_type":"gene","entity_name":"LRP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26142438","33776059","36067312"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Developmental dysplasia of the hip 3, MIM# 620690","Keratosis pilaris atrophicans MIM#604093"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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