{"count":35522,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=53","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=51","results":[{"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"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Autoinflammation, panniculitis, and dermatosis syndrome, MIM#\t617099"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7506","gene_name":"metaxin 2","omim_gene":["608555"],"alias_name":null,"gene_symbol":"MTX2","hgnc_symbol":"MTX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:177134123-177202753","ensembl_id":"ENSG00000128654"}},"GRch38":{"90":{"location":"2:176269395-176338025","ensembl_id":"ENSG00000128654"}}},"hgnc_date_symbol_changed":"1999-07-14"},"entity_type":"gene","entity_name":"MTX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32917887"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mandibuloacral dysplasia progeroid syndrome, MIM# 619127","Mandibuloacral dysplasia","lipodystrophy","arterial calcification"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HN3","PROS26"],"biotype":"protein_coding","hgnc_id":"HGNC:9541","gene_name":"proteasome subunit beta 4","omim_gene":["602177"],"alias_name":null,"gene_symbol":"PSMB4","hgnc_symbol":"PSMB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151372010-151374420","ensembl_id":"ENSG00000159377"}},"GRch38":{"90":{"location":"1:151399534-151401944","ensembl_id":"ENSG00000159377"}}},"hgnc_date_symbol_changed":"1995-05-03"},"entity_type":"gene","entity_name":"PSMB4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26524591"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM#\t617591"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CASIL"],"biotype":"protein_coding","hgnc_id":"HGNC:7883","gene_name":"notch 3","omim_gene":["600276"],"alias_name":null,"gene_symbol":"NOTCH3","hgnc_symbol":"NOTCH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:15270444-15311792","ensembl_id":"ENSG00000074181"}},"GRch38":{"90":{"location":"19:15159038-15200981","ensembl_id":"ENSG00000074181"}}},"hgnc_date_symbol_changed":"1994-07-04"},"entity_type":"gene","entity_name":"NOTCH3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39652711"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Lipodystrophy, familial partial, type 1, MIM#608600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ADRAR"],"biotype":"protein_coding","hgnc_id":"HGNC:281","gene_name":"adrenoceptor alpha 2A","omim_gene":["104210"],"alias_name":["alpha-2AAR subtype C10"," alpha-2A-adrenergic receptor"],"gene_symbol":"ADRA2A","hgnc_symbol":"ADRA2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112836790-112840658","ensembl_id":"ENSG00000150594"}},"GRch38":{"90":{"location":"10:111077163-111080907","ensembl_id":"ENSG00000150594"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"ADRA2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27376152"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Lipodystrophy, familial partial, type 8, OMIM #620679"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["JTK7","c-ABL","p150"],"biotype":"protein_coding","hgnc_id":"HGNC:76","gene_name":"ABL proto-oncogene 1, non-receptor tyrosine kinase","omim_gene":["189980"],"alias_name":null,"gene_symbol":"ABL1","hgnc_symbol":"ABL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133589333-133763062","ensembl_id":"ENSG00000097007"}},"GRch38":{"90":{"location":"9:130713946-130887675","ensembl_id":"ENSG00000097007"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28288113","32643838"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital heart defects and skeletal malformations syndrome (MIM# 617602)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11500","COE2"],"biotype":"protein_coding","hgnc_id":"HGNC:19090","gene_name":"early B-cell factor 2","omim_gene":["609934"],"alias_name":null,"gene_symbol":"EBF2","hgnc_symbol":"EBF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:25699246-25902913","ensembl_id":"ENSG00000221818"}},"GRch38":{"90":{"location":"8:25841730-26045397","ensembl_id":"ENSG00000221818"}}},"hgnc_date_symbol_changed":"2002-08-09"},"entity_type":"gene","entity_name":"EBF2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41615236","38978649","29704291"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Lipodystrophy, MONDO:0006573, EBF2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ35779","MGC120442","MGC120443","MGC120444","hPOC5"],"biotype":"protein_coding","hgnc_id":"HGNC:26658","gene_name":"POC5 centriolar protein","omim_gene":null,"alias_name":null,"gene_symbol":"POC5","hgnc_symbol":"POC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:74969949-75013313","ensembl_id":"ENSG00000152359"}},"GRch38":{"90":{"location":"5:75674124-75717481","ensembl_id":"ENSG00000152359"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40590205","29272404"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliopathy, MONDO:0005308, POC5-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8458227, 26114802, 26085578, 37162328, 28414270, 30158064"],"evidence":["Expert Review Green","ClinGen","ClinGen"],"phenotypes":["Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["STAF65gamma","KIAA0764","SPT7L","STAF65"],"biotype":"protein_coding","hgnc_id":"HGNC:30632","gene_name":"SPT7 like, STAGA complex gamma subunit","omim_gene":["612762"],"alias_name":null,"gene_symbol":"SUPT7L","hgnc_symbol":"SUPT7L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27873679-27886676","ensembl_id":"ENSG00000119760"}},"GRch38":{"90":{"location":"2:27650812-27663840","ensembl_id":"ENSG00000119760"}}},"hgnc_date_symbol_changed":"2005-06-24"},"entity_type":"gene","entity_name":"SUPT7L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38592547"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Fischer-Zirnsak progeroid syndrome, MIM# 621130"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HREV107","H-REV107-1","HREV107-3","MGC118754.","AdPLA"],"biotype":"protein_coding","hgnc_id":"HGNC:17825","gene_name":"phospholipase A2 group XVI","omim_gene":["613867"],"alias_name":["adipose-specific PLA2"],"gene_symbol":"PLA2G16","hgnc_symbol":"PLA2G16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63340667-63384355","ensembl_id":"ENSG00000176485"}},"GRch38":{"90":{"location":"11:63573195-63616883","ensembl_id":"ENSG00000176485"}}},"hgnc_date_symbol_changed":"2008-09-19"},"entity_type":"gene","entity_name":"PLA2G16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37919452"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lipodystrophy, familial partial, type 9, MIM# 620683"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LPAAT-beta"],"biotype":"protein_coding","hgnc_id":"HGNC:325","gene_name":"1-acylglycerol-3-phosphate O-acyltransferase 2","omim_gene":["603100"],"alias_name":["lysophosphatidic acid acyltransferase, beta"],"gene_symbol":"AGPAT2","hgnc_symbol":"AGPAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139567595-139581875","ensembl_id":"ENSG00000169692"}},"GRch38":{"90":{"location":"9:136673143-136687423","ensembl_id":"ENSG00000169692"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"AGPAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32876150","11967537"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, congenital generalized, type 1, MIM# 608594"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:392","gene_name":"AKT serine/threonine kinase 2","omim_gene":["164731"],"alias_name":null,"gene_symbol":"AKT2","hgnc_symbol":"AKT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:40736224-40791443","ensembl_id":"ENSG00000105221"}},"GRch38":{"90":{"location":"19:40230317-40285536","ensembl_id":"ENSG00000105221"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"AKT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27408773","21979934"],"evidence":["Expert Review Red","Literature"],"phenotypes":["AKT2-related familial partial lipodystrophy MONDO:0019192"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BAF"],"biotype":"protein_coding","hgnc_id":"HGNC:17397","gene_name":"barrier to autointegration factor 1","omim_gene":["603811"],"alias_name":null,"gene_symbol":"BANF1","hgnc_symbol":"BANF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65769550-65771620","ensembl_id":"ENSG00000175334"}},"GRch38":{"90":{"location":"11:66002079-66004149","ensembl_id":"ENSG00000175334"}}},"hgnc_date_symbol_changed":"2003-02-14"},"entity_type":"gene","entity_name":"BANF1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32783369","21549337"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Nestor-Guillermo progeria syndrome, MIM# 614008"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28476236"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bloom syndrome, MIM# 210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15832","gene_name":"BSCL2, seipin lipid droplet biogenesis associated","omim_gene":["606158"],"alias_name":null,"gene_symbol":"BSCL2","hgnc_symbol":"BSCL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62457747-62477317","ensembl_id":"ENSG00000168000"}},"GRch38":{"90":{"location":"11:62690275-62709845","ensembl_id":"ENSG00000168000"}}},"hgnc_date_symbol_changed":"2001-07-02"},"entity_type":"gene","entity_name":"BSCL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11479539","15181077","15126564","23564749"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, congenital generalized, type 2, MIM# 269700","MONDO:0010020","Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924","MONDO:0014402"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1527","gene_name":"caveolin 1","omim_gene":["601047"],"alias_name":null,"gene_symbol":"CAV1","hgnc_symbol":"CAV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:116164839-116201233","ensembl_id":"ENSG00000105974"}},"GRch38":{"90":{"location":"7:116524785-116561184","ensembl_id":"ENSG00000105974"}}},"hgnc_date_symbol_changed":"1993-11-02"},"entity_type":"gene","entity_name":"CAV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18237401","25898808","11739396","18211975","27717241","26176221","18541701","34643546","12660144"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721","Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cavin-1","CGL4"],"biotype":"protein_coding","hgnc_id":"HGNC:9688","gene_name":"caveolae associated protein 1","omim_gene":["603198"],"alias_name":["congenital generalized lipodystrophy 4"],"gene_symbol":"CAVIN1","hgnc_symbol":"CAVIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40554470-40575535","ensembl_id":"ENSG00000177469"}},"GRch38":{"90":{"location":"17:42402452-42423517","ensembl_id":"ENSG00000177469"}}},"hgnc_date_symbol_changed":"2017-03-24"},"entity_type":"gene","entity_name":"CAVIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19726876","20300641","20684003","18840361"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, congenital generalized, type 4, MIM# 613327","MONDO:0013225"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CIDE-3","FLJ20871","Fsp27"],"biotype":"protein_coding","hgnc_id":"HGNC:24229","gene_name":"cell death inducing DFFA like effector c","omim_gene":["612120"],"alias_name":null,"gene_symbol":"CIDEC","hgnc_symbol":"CIDEC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:9908398-9921938","ensembl_id":"ENSG00000187288"}},"GRch38":{"90":{"location":"3:9866711-9880254","ensembl_id":"ENSG00000187288"}}},"hgnc_date_symbol_changed":"2004-07-26"},"entity_type":"gene","entity_name":"CIDEC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20049731"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, familial partial, type 5, MIM# 615238"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSB","RAD26","ARMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3438","gene_name":"ERCC excision repair 6, chromatin remodeling factor","omim_gene":["609413"],"alias_name":["Cockayne syndrome B protein"],"gene_symbol":"ERCC6","hgnc_symbol":"ERCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50663414-50747584","ensembl_id":"ENSG00000225830"}},"GRch38":{"90":{"location":"10:49455368-49539538","ensembl_id":"ENSG00000225830"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ERCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28476236"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cockayne syndrome, type B, MIM# 133540"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28476236"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cockayne syndrome, type B, MIM# 133540"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MASS","OCTD","SGS"],"biotype":"protein_coding","hgnc_id":"HGNC:3603","gene_name":"fibrillin 1","omim_gene":["134797"],"alias_name":["Marfan syndrome","asprosin"],"gene_symbol":"FBN1","hgnc_symbol":"FBN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:48700503-48938046","ensembl_id":"ENSG00000166147"}},"GRch38":{"90":{"location":"15:48408306-48645849","ensembl_id":"ENSG00000166147"}}},"hgnc_date_symbol_changed":"1987-09-11"},"entity_type":"gene","entity_name":"FBN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20979188","21594992","21594993","24613577","26860060","29666143"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Marfan lipodystrophy syndrome, MIM# 616914"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir3.2","GIRK2","KATP2","BIR1","hiGIRK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6267","gene_name":"potassium voltage-gated channel subfamily J member 6","omim_gene":["600877"],"alias_name":null,"gene_symbol":"KCNJ6","hgnc_symbol":"KCNJ6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:38979678-39288749","ensembl_id":"ENSG00000157542"}},"GRch38":{"90":{"location":"21:37607376-37916446","ensembl_id":"ENSG00000157542"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"KCNJ6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25620207","29852244"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Keppen-Lubinsky syndrome, MIM# 614098","MONDO:0013572"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSL"],"biotype":"protein_coding","hgnc_id":"HGNC:6621","gene_name":"lipase E, hormone sensitive type","omim_gene":["151750"],"alias_name":null,"gene_symbol":"LIPE","hgnc_symbol":"LIPE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42905659-42931578","ensembl_id":"ENSG00000079435"}},"GRch38":{"90":{"location":"19:42401507-42427426","ensembl_id":"ENSG00000079435"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"LIPE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27862896","25475467","24848981"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["LIPE-related familial partial lipodystrophy, MONDO:0014431"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"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":["10587585","10655060"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, familial partial, type 2, MIM# 151660"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6638","gene_name":"lamin B2","omim_gene":["150341"],"alias_name":null,"gene_symbol":"LMNB2","hgnc_symbol":"LMNB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2427636-2456994","ensembl_id":"ENSG00000176619"}},"GRch38":{"90":{"location":"19:2427638-2456996","ensembl_id":"ENSG00000176619"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"LMNB2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16826530","22768673"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["{Lipodystrophy, partial, acquired, susceptibility to} 608709"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CT","CTPCT"],"biotype":"protein_coding","hgnc_id":"HGNC:8754","gene_name":"phosphate cytidylyltransferase 1, choline, alpha","omim_gene":["123695"],"alias_name":["phosphate cytidylyltransferase 1, choline, alpha isoform"],"gene_symbol":"PCYT1A","hgnc_symbol":"PCYT1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:195941093-196014828","ensembl_id":"ENSG00000161217"}},"GRch38":{"90":{"location":"3:196214222-196287957","ensembl_id":"ENSG00000161217"}}},"hgnc_date_symbol_changed":"1999-05-05"},"entity_type":"gene","entity_name":"PCYT1A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24889630"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, congenital generalized, type 5, MIM# 620680"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GRB1","p85-ALPHA","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8979","gene_name":"phosphoinositide-3-kinase regulatory subunit 1","omim_gene":["171833"],"alias_name":["phosphoinositide-3-kinase regulatory subunit alpha"],"gene_symbol":"PIK3R1","hgnc_symbol":"PIK3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:67511548-67597649","ensembl_id":"ENSG00000145675"}},"GRch38":{"90":{"location":"5:68215720-68301821","ensembl_id":"ENSG00000145675"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32439336","28472977","26974159","24886349","24830046"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["SHORT syndrome, MIM# 269880","Lipodystrophy","insulin resistance"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9076","gene_name":"perilipin 1","omim_gene":["170290"],"alias_name":null,"gene_symbol":"PLIN1","hgnc_symbol":"PLIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90207596-90222658","ensembl_id":"ENSG00000166819"}},"GRch38":{"90":{"location":"15:89664365-89679427","ensembl_id":"ENSG00000166819"}}},"hgnc_date_symbol_changed":"2009-08-12"},"entity_type":"gene","entity_name":"PLIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21345103","25114292","29747582","31504636","11371650","30020498"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["PLIN1-related familial partial lipodystrophy, MONDO:0013478"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDC2"],"biotype":"protein_coding","hgnc_id":"HGNC:9175","gene_name":"DNA polymerase delta 1, catalytic subunit","omim_gene":["174761"],"alias_name":["CDC2 homolog (S. cerevisiae)"],"gene_symbol":"POLD1","hgnc_symbol":"POLD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50887461-50921273","ensembl_id":"ENSG00000062822"}},"GRch38":{"90":{"location":"19:50384204-50418018","ensembl_id":"ENSG00000062822"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23770608","33618333","33369179","32826474","30023403","29199204","28791128"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381","MONDO:0014157"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PPARG1","PPARG2","NR1C3","PPARgamma"],"biotype":"protein_coding","hgnc_id":"HGNC:9236","gene_name":"peroxisome proliferator activated receptor gamma","omim_gene":["601487"],"alias_name":null,"gene_symbol":"PPARG","hgnc_symbol":"PPARG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:12328867-12475855","ensembl_id":"ENSG00000132170"}},"GRch38":{"90":{"location":"3:12287368-12434356","ensembl_id":"ENSG00000132170"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"PPARG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10622252","12453919","11788685","31863320"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, familial partial, type 3, MIM# 604367","MONDO:0011448"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RING10","D6S216E","PSMB5i","beta5i"],"biotype":"protein_coding","hgnc_id":"HGNC:9545","gene_name":"proteasome subunit beta 8","omim_gene":["177046"],"alias_name":null,"gene_symbol":"PSMB8","hgnc_symbol":"PSMB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32808494-32812480","ensembl_id":"ENSG00000204264"}},"GRch38":{"90":{"location":"6:32840717-32844703","ensembl_id":"ENSG00000204264"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"PSMB8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21129723","21881205","21852578","21953331"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Proteasome-associated autoinflammatory syndrome 1, MIM# 256040","MONDO:0054698"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP547N043","Spartan","DVC1"],"biotype":"protein_coding","hgnc_id":"HGNC:25356","gene_name":"SprT-like N-terminal domain","omim_gene":["616086"],"alias_name":["SprT-like domain at the N terminus","DNA damage-targeting VCP (p97) adaptor"],"gene_symbol":"SPRTN","hgnc_symbol":"SPRTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:231472850-231490769","ensembl_id":"ENSG00000010072"}},"GRch38":{"90":{"location":"1:231337104-231355023","ensembl_id":"ENSG00000010072"}}},"hgnc_date_symbol_changed":"2012-06-18"},"entity_type":"gene","entity_name":"SPRTN","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25261934"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Ruijs-Aalfs syndrome, MIM# 616200","MONDO:0014527"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RECQL2","RECQ3"],"biotype":"protein_coding","hgnc_id":"HGNC:12791","gene_name":"Werner syndrome RecQ like helicase","omim_gene":["604611"],"alias_name":null,"gene_symbol":"WRN","hgnc_symbol":"WRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:30891317-31031285","ensembl_id":"ENSG00000165392"}},"GRch38":{"90":{"location":"8:31033801-31173769","ensembl_id":"ENSG00000165392"}}},"hgnc_date_symbol_changed":"1991-08-21"},"entity_type":"gene","entity_name":"WRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28476236"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Werner syndrome, MIM# 277700","MONDO:0010196"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FACE-1","Ste24p","STE24","HGPS","PRO1"],"biotype":"protein_coding","hgnc_id":"HGNC:12877","gene_name":"zinc metallopeptidase STE24","omim_gene":["606480"],"alias_name":["Hutchinson-Gilford progeria syndrome","CAAX prenyl protease 1 homolog"],"gene_symbol":"ZMPSTE24","hgnc_symbol":"ZMPSTE24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40723779-40759856","ensembl_id":"ENSG00000084073"}},"GRch38":{"90":{"location":"1:40258107-40294184","ensembl_id":"ENSG00000084073"}}},"hgnc_date_symbol_changed":"1999-09-17"},"entity_type":"gene","entity_name":"ZMPSTE24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11923874","22718200","29794150","29208544","12913070","27410998"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612","MONDO:0012074"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC13125","fSAP71","Cwc26"],"biotype":"protein_coding","hgnc_id":"HGNC:28199","gene_name":"BUD13 homolog","omim_gene":null,"alias_name":["functional spliceosome-associated protein 71"],"gene_symbol":"BUD13","hgnc_symbol":"BUD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:116618886-116643704","ensembl_id":"ENSG00000137656"}},"GRch38":{"90":{"location":"11:116748170-116772988","ensembl_id":"ENSG00000137656"}}},"hgnc_date_symbol_changed":"2006-03-10"},"entity_type":"gene","entity_name":"BUD13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35670808"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Achalasia-progeroid syndrome, MIM# 621123"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9369","gene_name":"DNA primase subunit 1","omim_gene":["176635"],"alias_name":null,"gene_symbol":"PRIM1","hgnc_symbol":"PRIM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57125380-57146157","ensembl_id":"ENSG00000198056"}},"GRch38":{"90":{"location":"12:56731596-56752373","ensembl_id":"ENSG00000198056"}}},"hgnc_date_symbol_changed":"1990-07-26"},"entity_type":"gene","entity_name":"PRIM1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33060134"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KCR1"],"biotype":"protein_coding","hgnc_id":"HGNC:31088","gene_name":"ALG10B, alpha-1,2-glucosyltransferase","omim_gene":null,"alias_name":["potassium channel regulator 1","dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"],"gene_symbol":"ALG10B","hgnc_symbol":"ALG10B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:38710380-38717784","ensembl_id":"ENSG00000175548"}},"GRch38":{"90":{"location":"12:38316578-38329728","ensembl_id":"ENSG00000175548"}}},"hgnc_date_symbol_changed":"2004-11-30"},"entity_type":"gene","entity_name":"ALG10B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37071726"],"evidence":["ClinGen","ClinGen"],"phenotypes":["long QT syndrome MONDO:0002442"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PHKD"],"biotype":"protein_coding","hgnc_id":"HGNC:1449","gene_name":"calmodulin 3","omim_gene":["114183"],"alias_name":["prepro-calmodulin 3","phosphorylase kinase subunit delta"],"gene_symbol":"CALM3","hgnc_symbol":"CALM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47104331-47114050","ensembl_id":"ENSG00000160014"}},"GRch38":{"90":{"location":"19:46601074-46610793","ensembl_id":"ENSG00000160014"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"CALM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25460178","31454269"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Long QT syndrome 16, MIM#\t618782"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12261","gene_name":"triadin","omim_gene":["603283"],"alias_name":null,"gene_symbol":"TRDN","hgnc_symbol":"TRDN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:123537483-123958238","ensembl_id":"ENSG00000186439"}},"GRch38":{"90":{"location":"6:123216339-123637093","ensembl_id":"ENSG00000186439"}}},"hgnc_date_symbol_changed":"1999-12-17"},"entity_type":"gene","entity_name":"TRDN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31983240","25922419"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Long QT syndrome","Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM#\t615441"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAMI","PHKD","DD132"],"biotype":"protein_coding","hgnc_id":"HGNC:1442","gene_name":"calmodulin 1","omim_gene":["114180"],"alias_name":["prepro-calmodulin 1","phosphorylase kinase subunit delta"],"gene_symbol":"CALM1","hgnc_symbol":"CALM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:90862846-90874605","ensembl_id":"ENSG00000198668"}},"GRch38":{"90":{"location":"14:90396502-90408261","ensembl_id":"ENSG00000198668"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"CALM1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Long QT syndrome 14, MIM#\t616247"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PHKD","CAMII"],"biotype":"protein_coding","hgnc_id":"HGNC:1445","gene_name":"calmodulin 2","omim_gene":["114182"],"alias_name":["prepro-calmodulin 2","phosphorylase kinase subunit delta"],"gene_symbol":"CALM2","hgnc_symbol":"CALM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47387221-47403740","ensembl_id":"ENSG00000143933"}},"GRch38":{"90":{"location":"2:47160082-47176601","ensembl_id":"ENSG00000143933"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"CALM2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 31983240"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Long QT syndrome 15, MIM#\t616249"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0803","AKAP350","AKAP450","CG-NAP","YOTIAO","HYPERION","PRKA9","MU-RMS-40.16A","PPP1R45","LQT11"],"biotype":"protein_coding","hgnc_id":"HGNC:379","gene_name":"A-kinase anchoring protein 9","omim_gene":["604001"],"alias_name":["A-kinase anchoring protein 450","AKAP9-BRAF fusion protein","AKAP120-like protein","centrosome- and golgi-localized protein kinase N-associated protein","protein kinase A anchoring protein 9","A-kinase anchor protein, 350kDa","protein phosphatase 1, regulatory subunit 45","yotiao"],"gene_symbol":"AKAP9","hgnc_symbol":"AKAP9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:91570181-91739987","ensembl_id":"ENSG00000127914"}},"GRch38":{"90":{"location":"7:91940867-92110673","ensembl_id":"ENSG00000127914"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"AKAP9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["long QT syndrome"],"mode_of_inheritance":"Unknown","tags":["disputed"],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:493","gene_name":"ankyrin 2","omim_gene":["106410"],"alias_name":null,"gene_symbol":"ANK2","hgnc_symbol":"ANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:113739265-114304896","ensembl_id":"ENSG00000145362"}},"GRch38":{"90":{"location":"4:112818109-113383740","ensembl_id":"ENSG00000145362"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"ANK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 4, MIM#\t600919"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav1.2","CACH2","CACN2","TS","LQT8"],"biotype":"protein_coding","hgnc_id":"HGNC:1390","gene_name":"calcium voltage-gated channel subunit alpha1 C","omim_gene":["114205"],"alias_name":null,"gene_symbol":"CACNA1C","hgnc_symbol":"CACNA1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:2079952-2802108","ensembl_id":"ENSG00000151067"}},"GRch38":{"90":{"location":"12:1970786-2697950","ensembl_id":"ENSG00000151067"}}},"hgnc_date_symbol_changed":"1991-01-30"},"entity_type":"gene","entity_name":"CACNA1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 8, MIM#\t618447","Timothy syndrome, MIM#\t601005"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VIP-21","LGMD1C","VIP21","LQT9"],"biotype":"protein_coding","hgnc_id":"HGNC:1529","gene_name":"caveolin 3","omim_gene":["601253"],"alias_name":["M-caveolin"],"gene_symbol":"CAV3","hgnc_symbol":"CAV3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:8775486-8883492","ensembl_id":"ENSG00000182533"}},"GRch38":{"90":{"location":"3:8733800-8841808","ensembl_id":"ENSG00000182533"}}},"hgnc_date_symbol_changed":"1998-05-14"},"entity_type":"gene","entity_name":"CAV3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31983240","17060380"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 9, MIM# 611818"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Jervell and Lange-Nielsen syndrome 2, MIM# 612347","Long QT syndrome 5, MIM# 613695","Acquired LQTS"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MiRP1","LQT6"],"biotype":"protein_coding","hgnc_id":"HGNC:6242","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 2","omim_gene":["603796"],"alias_name":null,"gene_symbol":"KCNE2","hgnc_symbol":"KCNE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35736323-35743688","ensembl_id":"ENSG00000159197"}},"GRch38":{"90":{"location":"21:34364024-34371389","ensembl_id":"ENSG00000159197"}}},"hgnc_date_symbol_changed":"1999-05-11"},"entity_type":"gene","entity_name":"KCNE2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240","28794082"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv11.1","HERG","erg1"],"biotype":"protein_coding","hgnc_id":"HGNC:6251","gene_name":"potassium voltage-gated channel subfamily H member 2","omim_gene":["152427"],"alias_name":null,"gene_symbol":"KCNH2","hgnc_symbol":"KCNH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:150642049-150675403","ensembl_id":"ENSG00000055118"}},"GRch38":{"90":{"location":"7:150944961-150978315","ensembl_id":"ENSG00000055118"}}},"hgnc_date_symbol_changed":"1993-03-22"},"entity_type":"gene","entity_name":"KCNH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["long QT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir2.1","IRK1","LQT7"],"biotype":"protein_coding","hgnc_id":"HGNC:6263","gene_name":"potassium voltage-gated channel subfamily J member 2","omim_gene":["600681"],"alias_name":null,"gene_symbol":"KCNJ2","hgnc_symbol":"KCNJ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:68164814-68176189","ensembl_id":"ENSG00000123700"}},"GRch38":{"90":{"location":"17:70168673-70180048","ensembl_id":"ENSG00000123700"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"KCNJ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["long QT syndrome","Andersen-Tawil syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir3.4","CIR","KATP1","GIRK4","LQT13"],"biotype":"protein_coding","hgnc_id":"HGNC:6266","gene_name":"potassium voltage-gated channel subfamily J member 5","omim_gene":["600734"],"alias_name":null,"gene_symbol":"KCNJ5","hgnc_symbol":"KCNJ5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:128761251-128790930","ensembl_id":"ENSG00000120457"}},"GRch38":{"90":{"location":"11:128891356-128921035","ensembl_id":"ENSG00000120457"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"KCNJ5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 13, MIM#\t613485"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.1","KCNA8","KVLQT1","JLNS1","LQT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6294","gene_name":"potassium voltage-gated channel subfamily Q member 1","omim_gene":["607542"],"alias_name":["Jervell and Lange-Nielsen syndrome 1"],"gene_symbol":"KCNQ1","hgnc_symbol":"KCNQ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2465914-2870339","ensembl_id":"ENSG00000053918"}},"GRch38":{"90":{"location":"11:2444684-2849109","ensembl_id":"ENSG00000053918"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"KCNQ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301308"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Atrial fibrillation, familial, 3 607554","Jervell and Lange-Nielsen syndrome 220400","Long QT syndrome 1, 192500","Short QT syndrome 2 609621"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LQT10"],"biotype":"protein_coding","hgnc_id":"HGNC:10592","gene_name":"sodium voltage-gated channel beta subunit 4","omim_gene":["608256"],"alias_name":null,"gene_symbol":"SCN4B","hgnc_symbol":"SCN4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118004092-118023603","ensembl_id":"ENSG00000177098"}},"GRch38":{"90":{"location":"11:118133377-118152888","ensembl_id":"ENSG00000177098"}}},"hgnc_date_symbol_changed":"1990-09-30"},"entity_type":"gene","entity_name":"SCN4B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 10, MIM#\t611819"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.5","LQT3","HB1","HBBD","PFHB1","IVF","HB2","HH1","SSS1","CDCD2","CMPD2","ICCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10593","gene_name":"sodium voltage-gated channel alpha subunit 5","omim_gene":["600163"],"alias_name":["long QT syndrome 3"],"gene_symbol":"SCN5A","hgnc_symbol":"SCN5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38589548-38691164","ensembl_id":"ENSG00000183873"}},"GRch38":{"90":{"location":"3:38548057-38649673","ensembl_id":"ENSG00000183873"}}},"hgnc_date_symbol_changed":"1992-04-10"},"entity_type":"gene","entity_name":"SCN5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29798782"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 3 (MIM#603830)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TACIP1","LQT12"],"biotype":"protein_coding","hgnc_id":"HGNC:11167","gene_name":"syntrophin alpha 1","omim_gene":["601017"],"alias_name":["pro-TGF-alpha cytoplasmic domain-interacting protein 1","dystrophin-associated protein A1, 59kDa, acidic component"],"gene_symbol":"SNTA1","hgnc_symbol":"SNTA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:31995761-32031698","ensembl_id":"ENSG00000101400"}},"GRch38":{"90":{"location":"20:33407955-33443892","ensembl_id":"ENSG00000101400"}}},"hgnc_date_symbol_changed":"1994-12-14"},"entity_type":"gene","entity_name":"SNTA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 12, MIM#\t612955"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:132","gene_name":"actin beta","omim_gene":["102630"],"alias_name":null,"gene_symbol":"ACTB","hgnc_symbol":"ACTB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:5566782-5603415","ensembl_id":"ENSG00000075624"}},"GRch38":{"90":{"location":"7:5527151-5563784","ensembl_id":"ENSG00000075624"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACTB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COE3","DKFZp667B0210"],"biotype":"protein_coding","hgnc_id":"HGNC:19087","gene_name":"early B-cell factor 3","omim_gene":["607407"],"alias_name":null,"gene_symbol":"EBF3","hgnc_symbol":"EBF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:131633547-131762105","ensembl_id":"ENSG00000108001"}},"GRch38":{"90":{"location":"10:129835283-129963841","ensembl_id":"ENSG00000108001"}}},"hgnc_date_symbol_changed":"2002-11-11"},"entity_type":"gene","entity_name":"EBF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSBP","TUNP"],"biotype":"protein_coding","hgnc_id":"HGNC:5044","gene_name":"heterogeneous nuclear ribonucleoprotein K","omim_gene":["600712"],"alias_name":["transformation upregulated nuclear protein"],"gene_symbol":"HNRNPK","hgnc_symbol":"HNRNPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:86582998-86595569","ensembl_id":"ENSG00000165119"}},"GRch38":{"90":{"location":"9:83968083-83980616","ensembl_id":"ENSG00000165119"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ALR","MLL4","CAGL114"],"biotype":"protein_coding","hgnc_id":"HGNC:7133","gene_name":"lysine methyltransferase 2D","omim_gene":["602113"],"alias_name":null,"gene_symbol":"KMT2D","hgnc_symbol":"KMT2D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49412758-49453557","ensembl_id":"ENSG00000167548"}},"GRch38":{"90":{"location":"12:49018975-49059774","ensembl_id":"ENSG00000167548"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KREV-1","SMGP21"],"biotype":"protein_coding","hgnc_id":"HGNC:9855","gene_name":"RAP1A, member of RAS oncogene family","omim_gene":["179520"],"alias_name":null,"gene_symbol":"RAP1A","hgnc_symbol":"RAP1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:112084840-112259313","ensembl_id":"ENSG00000116473"}},"GRch38":{"90":{"location":"1:111542218-111716691","ensembl_id":"ENSG00000116473"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RAP1A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26280580"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Kabuki syndrome MONDO:0016512, RAP1A-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["K-REV","RAL1B","DKFZp586H0723"],"biotype":"protein_coding","hgnc_id":"HGNC:9857","gene_name":"RAP1B, member of RAS oncogene family","omim_gene":["179530"],"alias_name":null,"gene_symbol":"RAP1B","hgnc_symbol":"RAP1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:69004619-69054372","ensembl_id":"ENSG00000127314"}},"GRch38":{"90":{"location":"12:68610839-68671901","ensembl_id":"ENSG00000127314"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RAP1B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26280580"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654","Kabuki-like syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHED","CDC2L","KIAA1791"],"biotype":"protein_coding","hgnc_id":"HGNC:1733","gene_name":"cyclin dependent kinase 13","omim_gene":["603309"],"alias_name":["cholinesterase-related cell division controller"],"gene_symbol":"CDK13","hgnc_symbol":"CDK13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:39989636-40136733","ensembl_id":"ENSG00000065883"}},"GRch38":{"90":{"location":"7:39950037-40097134","ensembl_id":"ENSG00000065883"}}},"hgnc_date_symbol_changed":"2009-12-16"},"entity_type":"gene","entity_name":"CDK13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29021403","29393965","30904094"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":null,"name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.17","version_created":"2025-11-13T11:58:53.337652+11:00","relevant_disorders":["Kabuki syndrome","MONDO:0016512"],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["2E4"],"biotype":"protein_coding","hgnc_id":"HGNC:6404","gene_name":"kaptin, actin binding protein","omim_gene":["615620"],"alias_name":null,"gene_symbol":"KPTN","hgnc_symbol":"KPTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47978401-47987525","ensembl_id":"ENSG00000118162"}},"GRch38":{"90":{"location":"19:47475144-47484268","ensembl_id":"ENSG00000118162"}}},"hgnc_date_symbol_changed":"1999-08-27"},"entity_type":"gene","entity_name":"KPTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24239382","32358097","32808430"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Mental retardation, autosomal recessive 41 (MIM#615637)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["A2lp","A2D"],"biotype":"protein_coding","hgnc_id":"HGNC:31326","gene_name":"ataxin 2 like","omim_gene":["607931"],"alias_name":null,"gene_symbol":"ATXN2L","hgnc_symbol":"ATXN2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28834356-28848558","ensembl_id":"ENSG00000168488"}},"GRch38":{"90":{"location":"16:28823035-28837237","ensembl_id":"ENSG00000168488"}}},"hgnc_date_symbol_changed":"2004-08-18"},"entity_type":"gene","entity_name":"ATXN2L","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["33283965","33057194"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["macrocephaly","intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PR65A","PP2A-Aalpha","PP2AA"],"biotype":"protein_coding","hgnc_id":"HGNC:9302","gene_name":"protein phosphatase 2 scaffold subunit Aalpha","omim_gene":["605983"],"alias_name":["protein phosphatase 2A, regulatory subunit A, alpha isoform","protein phosphatase 2, 65kDa regulatory subunit A","protein phosphatase 2A structural subunit A, alpha isoform"],"gene_symbol":"PPP2R1A","hgnc_symbol":"PPP2R1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:52693292-52730687","ensembl_id":"ENSG00000105568"}},"GRch38":{"90":{"location":"19:52190039-52229533","ensembl_id":"ENSG00000105568"}}},"hgnc_date_symbol_changed":"1993-01-25"},"entity_type":"gene","entity_name":"PPP2R1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 33106617","26168268"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mental retardation, autosomal dominant 36, MIM#616362","Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1106","NZF1","ZC2HC4B","ZC2H2C2"],"biotype":"protein_coding","hgnc_id":"HGNC:7623","gene_name":"myelin transcription factor 1 like","omim_gene":["613084"],"alias_name":["neural zinc finger transcription factor 1"],"gene_symbol":"MYT1L","hgnc_symbol":"MYT1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:1792885-2335032","ensembl_id":"ENSG00000186487"}},"GRch38":{"90":{"location":"2:1789113-2331260","ensembl_id":"ENSG00000186487"}}},"hgnc_date_symbol_changed":"1996-07-11"},"entity_type":"gene","entity_name":"MYT1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["(PMID: 32065501)"],"evidence":["Expert Review Green","Literature"],"phenotypes":["intellectual disability","macrocephaly","epilepsy","autism","Mental retardation, autosomal dominant 39, MIM#\t616521"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bHLHe37","N-myc","MYCNOT"],"biotype":"protein_coding","hgnc_id":"HGNC:7559","gene_name":"MYCN proto-oncogene, bHLH transcription factor","omim_gene":["164840"],"alias_name":null,"gene_symbol":"MYCN","hgnc_symbol":"MYCN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:16080686-16087129","ensembl_id":"ENSG00000134323"}},"GRch38":{"90":{"location":"2:15940564-15947007","ensembl_id":"ENSG00000134323"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MYCN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["30573562","37710961"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Megalencephaly-polydactyly syndrome, MIM# 620748"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Mi-2b","Mi2-BETA"],"biotype":"protein_coding","hgnc_id":"HGNC:1919","gene_name":"chromodomain helicase DNA binding protein 4","omim_gene":["603277"],"alias_name":null,"gene_symbol":"CHD4","hgnc_symbol":"CHD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6679249-6716642","ensembl_id":"ENSG00000111642"}},"GRch38":{"90":{"location":"12:6570083-6607476","ensembl_id":"ENSG00000111642"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"CHD4","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31388190","27616479"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Sifrim-Hitz-Weiss syndrome (MIM#617159)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B56G","PR61G","B56gamma"],"biotype":"protein_coding","hgnc_id":"HGNC:9311","gene_name":"protein phosphatase 2 regulatory subunit B'gamma","omim_gene":["601645"],"alias_name":null,"gene_symbol":"PPP2R5C","hgnc_symbol":"PPP2R5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:102228135-102394326","ensembl_id":"ENSG00000078304"}},"GRch38":{"90":{"location":"14:101761798-101927989","ensembl_id":"ENSG00000078304"}}},"hgnc_date_symbol_changed":"1996-05-08"},"entity_type":"gene","entity_name":"PPP2R5C","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["25972378"],"evidence":["Expert Review Green","Research"],"phenotypes":["Houge-Janssens syndrome 4, MIM# 621185"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARHGEF23"],"biotype":"protein_coding","hgnc_id":"HGNC:12303","gene_name":"trio Rho guanine nucleotide exchange factor","omim_gene":["601893"],"alias_name":null,"gene_symbol":"TRIO","hgnc_symbol":"TRIO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14143811-14532235","ensembl_id":"ENSG00000038382"}},"GRch38":{"90":{"location":"5:14143702-14532128","ensembl_id":"ENSG00000038382"}}},"hgnc_date_symbol_changed":"1997-01-29"},"entity_type":"gene","entity_name":"TRIO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 32109419","28928363"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061","Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EEF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:3214","gene_name":"eukaryotic translation elongation factor 2","omim_gene":["130610"],"alias_name":["polypeptidyl-tRNA translocase"],"gene_symbol":"EEF2","hgnc_symbol":"EEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3976054-3985467","ensembl_id":"ENSG00000167658"}},"GRch38":{"90":{"location":"19:3976056-3985469","ensembl_id":"ENSG00000167658"}}},"hgnc_date_symbol_changed":"1991-03-11"},"entity_type":"gene","entity_name":"EEF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33355653"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder","macrocephaly","hydrocephalus"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ25179","p170"],"biotype":"protein_coding","hgnc_id":"HGNC:23336","gene_name":"alpha-2-macroglobulin like 1","omim_gene":["610627"],"alias_name":null,"gene_symbol":"A2ML1","hgnc_symbol":"A2ML1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:8975068-9039597","ensembl_id":"ENSG00000166535"}},"GRch38":{"90":{"location":"12:8822472-8887001","ensembl_id":"ENSG00000166535"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"A2ML1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24939586","25862627"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SUR2","CMD1O"],"biotype":"protein_coding","hgnc_id":"HGNC:60","gene_name":"ATP binding cassette subfamily C member 9","omim_gene":["601439"],"alias_name":["sulfonylurea receptor 2"],"gene_symbol":"ABCC9","hgnc_symbol":"ABCC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21950335-22094336","ensembl_id":"ENSG00000069431"}},"GRch38":{"90":{"location":"12:21797401-21942529","ensembl_id":"ENSG00000069431"}}},"hgnc_date_symbol_changed":"1999-10-26"},"entity_type":"gene","entity_name":"ABCC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASRG"],"biotype":"protein_coding","hgnc_id":"HGNC:318","gene_name":"aspartylglucosaminidase","omim_gene":["613228"],"alias_name":["glycosylasparaginase","N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"],"gene_symbol":"AGA","hgnc_symbol":"AGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:178351924-178363657","ensembl_id":"ENSG00000038002"}},"GRch38":{"90":{"location":"4:177430770-177442503","ensembl_id":"ENSG00000038002"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"AGA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1703489","1904874","8064811","8946839"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aspartylglucosaminuria, MIM# 208400","MONDO:0008830"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAC","PKB","PRKBA","AKT"],"biotype":"protein_coding","hgnc_id":"HGNC:391","gene_name":"AKT serine/threonine kinase 1","omim_gene":["164730"],"alias_name":null,"gene_symbol":"AKT1","hgnc_symbol":"AKT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105235686-105262088","ensembl_id":"ENSG00000142208"}},"GRch38":{"90":{"location":"14:104769349-104795751","ensembl_id":"ENSG00000142208"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AKT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["23246288"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Cowden syndrome 6, MIM#615109"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PKBG","RAC-gamma","PRKBG"],"biotype":"protein_coding","hgnc_id":"HGNC:393","gene_name":"AKT serine/threonine kinase 3","omim_gene":["611223"],"alias_name":["protein kinase B, gamma"],"gene_symbol":"AKT3","hgnc_symbol":"AKT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:243651535-244014381","ensembl_id":"ENSG00000117020"}},"GRch38":{"90":{"location":"1:243488233-243851079","ensembl_id":"ENSG00000117020"}}},"hgnc_date_symbol_changed":"1999-11-16"},"entity_type":"gene","entity_name":"AKT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28969385"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RP11-403E24.2","FLJ39827","WTX"],"biotype":"protein_coding","hgnc_id":"HGNC:26837","gene_name":"APC membrane recruitment protein 1","omim_gene":["300647"],"alias_name":["Wilms Tumor on the X","adenomatous polyposis coli membrane recruitment 1"],"gene_symbol":"AMER1","hgnc_symbol":"AMER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:63404997-63425624","ensembl_id":"ENSG00000184675"}},"GRch38":{"90":{"location":"X:64185117-64205744","ensembl_id":"ENSG00000184675"}}},"hgnc_date_symbol_changed":"2012-12-03"},"entity_type":"gene","entity_name":"AMER1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HANK","ANK","CPPDD"],"biotype":"protein_coding","hgnc_id":"HGNC:15492","gene_name":"ANKH inorganic pyrophosphate transport regulator","omim_gene":["605145"],"alias_name":null,"gene_symbol":"ANKH","hgnc_symbol":"ANKH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14704910-14871887","ensembl_id":"ENSG00000154122"}},"GRch38":{"90":{"location":"5:14704804-14871778","ensembl_id":"ENSG00000154122"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"ANKH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"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:714","gene_name":"arylsulfatase B","omim_gene":["611542"],"alias_name":null,"gene_symbol":"ARSB","hgnc_symbol":"ARSB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:78073032-78281910","ensembl_id":"ENSG00000113273"}},"GRch38":{"90":{"location":"5:78777209-78986087","ensembl_id":"ENSG00000113273"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ARSB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["treatable","clinical trial"],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASP","ACY2"],"biotype":"protein_coding","hgnc_id":"HGNC:756","gene_name":"aspartoacylase","omim_gene":["608034"],"alias_name":["aminoacylase 2","Canavan disease"],"gene_symbol":"ASPA","hgnc_symbol":"ASPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3375668-3406713","ensembl_id":"ENSG00000108381"}},"GRch38":{"90":{"location":"17:3472374-3503419","ensembl_id":"ENSG00000108381"}}},"hgnc_date_symbol_changed":"1993-12-09"},"entity_type":"gene","entity_name":"ASPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASXH2","FLJ10898","KIAA1685"],"biotype":"protein_coding","hgnc_id":"HGNC:23805","gene_name":"additional sex combs like 2, transcriptional regulator","omim_gene":["612991"],"alias_name":null,"gene_symbol":"ASXL2","hgnc_symbol":"ASXL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:25956622-26101385","ensembl_id":"ENSG00000143970"}},"GRch38":{"90":{"location":"2:25733753-25878516","ensembl_id":"ENSG00000143970"}}},"hgnc_date_symbol_changed":"2003-12-11"},"entity_type":"gene","entity_name":"ASXL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27693232","33751773"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Shashi-Pena syndrome, MIM# 617190"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"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:869","gene_name":"ATPase copper transporting alpha","omim_gene":["300011"],"alias_name":["copper pump 1","copper-transporting ATPase 1"],"gene_symbol":"ATP7A","hgnc_symbol":"ATP7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77166194-77305892","ensembl_id":"ENSG00000165240"}},"GRch38":{"90":{"location":"X:77910656-78050395","ensembl_id":"ENSG00000165240"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Menkes disease MIM#309400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable"],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BRAF1"],"biotype":"protein_coding","hgnc_id":"HGNC:1097","gene_name":"B-Raf proto-oncogene, serine/threonine kinase","omim_gene":["164757"],"alias_name":null,"gene_symbol":"BRAF","hgnc_symbol":"BRAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:140419127-140624564","ensembl_id":"ENSG00000157764"}},"GRch38":{"90":{"location":"7:140719327-140924764","ensembl_id":"ENSG00000157764"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"BRAF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Car2","CA-II","CAII"],"biotype":"protein_coding","hgnc_id":"HGNC:1373","gene_name":"carbonic anhydrase 2","omim_gene":["611492"],"alias_name":null,"gene_symbol":"CA2","hgnc_symbol":"CA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:86376081-86393722","ensembl_id":"ENSG00000104267"}},"GRch38":{"90":{"location":"8:85463852-85481493","ensembl_id":"ENSG00000104267"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF55","c-Cbl"],"biotype":"protein_coding","hgnc_id":"HGNC:1541","gene_name":"Cbl proto-oncogene","omim_gene":["165360"],"alias_name":["oncogene CBL2"],"gene_symbol":"CBL","hgnc_symbol":"CBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119076752-119178859","ensembl_id":"ENSG00000110395"}},"GRch38":{"90":{"location":"11:119206276-119313926","ensembl_id":"ENSG00000110395"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"CBL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"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:1583","gene_name":"cyclin D2","omim_gene":["123833"],"alias_name":["G1/S-specific cyclin D2"],"gene_symbol":"CCND2","hgnc_symbol":"CCND2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4382938-4414516","ensembl_id":"ENSG00000118971"}},"GRch38":{"90":{"location":"12:4273772-4305350","ensembl_id":"ENSG00000118971"}}},"hgnc_date_symbol_changed":"1991-12-10"},"entity_type":"gene","entity_name":"CCND2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P57","KIP2"],"biotype":"protein_coding","hgnc_id":"HGNC:1786","gene_name":"cyclin dependent kinase inhibitor 1C","omim_gene":["600856"],"alias_name":null,"gene_symbol":"CDKN1C","hgnc_symbol":"CDKN1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2904443-2907111","ensembl_id":"ENSG00000129757"}},"GRch38":{"90":{"location":"11:2883213-2885881","ensembl_id":"ENSG00000129757"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"CDKN1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Mi-2a","ZFH","Mi2-ALPHA"],"biotype":"protein_coding","hgnc_id":"HGNC:1918","gene_name":"chromodomain helicase DNA binding protein 3","omim_gene":["602120"],"alias_name":null,"gene_symbol":"CHD3","hgnc_symbol":"CHD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7788124-7816078","ensembl_id":"ENSG00000170004"}},"GRch38":{"90":{"location":"17:7884806-7912760","ensembl_id":"ENSG00000170004"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"CHD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1564","DUPLIN"],"biotype":"protein_coding","hgnc_id":"HGNC:20153","gene_name":"chromodomain helicase DNA binding protein 8","omim_gene":["610528"],"alias_name":null,"gene_symbol":"CHD8","hgnc_symbol":"CHD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:21853353-21924285","ensembl_id":"ENSG00000100888"}},"GRch38":{"90":{"location":"14:21385194-21456126","ensembl_id":"ENSG00000100888"}}},"hgnc_date_symbol_changed":"2004-06-23"},"entity_type":"gene","entity_name":"CHD8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLC-7","OPTA2","CLC7","ClC-7","PPP1R63"],"biotype":"protein_coding","hgnc_id":"HGNC:2025","gene_name":"chloride voltage-gated channel 7","omim_gene":["602727"],"alias_name":["protein phosphatase 1, regulatory subunit 63"],"gene_symbol":"CLCN7","hgnc_symbol":"CLCN7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1494935-1525581","ensembl_id":"ENSG00000103249"}},"GRch38":{"90":{"location":"16:1444934-1475580","ensembl_id":"ENSG00000103249"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"CLCN7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"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:9251","gene_name":"cathepsin A","omim_gene":["613111"],"alias_name":["carboxypeptidase C","lysosomal protective protein","carboxypeptidase-L","carboxypeptidase Y-like kininase","deamidase","lysosomal carboxypeptidase A","urinary kininase"],"gene_symbol":"CTSA","hgnc_symbol":"CTSA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44518783-44527459","ensembl_id":"ENSG00000064601"}},"GRch38":{"90":{"location":"20:45890144-45898820","ensembl_id":"ENSG00000064601"}}},"hgnc_date_symbol_changed":"2006-12-05"},"entity_type":"gene","entity_name":"CTSA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PKND"],"biotype":"protein_coding","hgnc_id":"HGNC:2536","gene_name":"cathepsin K","omim_gene":["601105"],"alias_name":null,"gene_symbol":"CTSK","hgnc_symbol":"CTSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150768684-150780799","ensembl_id":"ENSG00000143387"}},"GRch38":{"90":{"location":"1:150796208-150808323","ensembl_id":"ENSG00000143387"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"CTSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC25181","D2HGD","FLJ42195"],"biotype":"protein_coding","hgnc_id":"HGNC:28358","gene_name":"D-2-hydroxyglutarate dehydrogenase","omim_gene":["609186"],"alias_name":null,"gene_symbol":"D2HGDH","hgnc_symbol":"D2HGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:242673994-242708231","ensembl_id":"ENSG00000180902"}},"GRch38":{"90":{"location":"2:241734579-241768816","ensembl_id":"ENSG00000180902"}}},"hgnc_date_symbol_changed":"2006-03-09"},"entity_type":"gene","entity_name":"D2HGDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ36974","MGC42174"],"biotype":"protein_coding","hgnc_id":"HGNC:28648","gene_name":"DIS3 like 3'-5' exoribonuclease 2","omim_gene":["614184"],"alias_name":null,"gene_symbol":"DIS3L2","hgnc_symbol":"DIS3L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232825955-233209060","ensembl_id":"ENSG00000144535"}},"GRch38":{"90":{"location":"2:231961245-232344350","ensembl_id":"ENSG00000144535"}}},"hgnc_date_symbol_changed":"2007-01-17"},"entity_type":"gene","entity_name":"DIS3L2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"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:2978","gene_name":"DNA methyltransferase 3 alpha","omim_gene":["602769"],"alias_name":null,"gene_symbol":"DNMT3A","hgnc_symbol":"DNMT3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:25455845-25565459","ensembl_id":"ENSG00000119772"}},"GRch38":{"90":{"location":"2:25227855-25342590","ensembl_id":"ENSG00000119772"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"DNMT3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24614070"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Tatton-Brown-Rahman syndrome, OMIM# 615879"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["WAIT-1","HEED"],"biotype":"protein_coding","hgnc_id":"HGNC:3188","gene_name":"embryonic ectoderm development","omim_gene":["605984"],"alias_name":["WD protein associating with integrin cytoplasmic tails 1"],"gene_symbol":"EED","hgnc_symbol":"EED","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:85955586-85989855","ensembl_id":"ENSG00000074266"}},"GRch38":{"90":{"location":"11:86244544-86278813","ensembl_id":"ENSG00000074266"}}},"hgnc_date_symbol_changed":"1998-12-09"},"entity_type":"gene","entity_name":"EED","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EZH1","ENX-1","KMT6","KMT6A"],"biotype":"protein_coding","hgnc_id":"HGNC:3527","gene_name":"enhancer of zeste 2 polycomb repressive complex 2 subunit","omim_gene":["601573"],"alias_name":null,"gene_symbol":"EZH2","hgnc_symbol":"EZH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:148504475-148581413","ensembl_id":"ENSG00000106462"}},"GRch38":{"90":{"location":"7:148807383-148884321","ensembl_id":"ENSG00000106462"}}},"hgnc_date_symbol_changed":"1995-12-21"},"entity_type":"gene","entity_name":"EZH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29244146","23865096"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Weaver syndrome MIM#277590"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IMAGE:4942737","DKFZp547D065","DMP4","G-CK"],"biotype":"protein_coding","hgnc_id":"HGNC:22140","gene_name":"FAM20C, golgi associated secretory pathway kinase","omim_gene":["611061"],"alias_name":["dentin matrix protein 4","golgi casein kinase"],"gene_symbol":"FAM20C","hgnc_symbol":"FAM20C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:192969-300711","ensembl_id":"ENSG00000177706"}},"GRch38":{"90":{"location":"7:192969-260745","ensembl_id":"ENSG00000177706"}}},"hgnc_date_symbol_changed":"2003-09-03"},"entity_type":"gene","entity_name":"FAM20C","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":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["URP2","KIND3","MIG2B","MGC10966","MIG-2","UNC112C"],"biotype":"protein_coding","hgnc_id":"HGNC:23151","gene_name":"fermitin family member 3","omim_gene":["607901"],"alias_name":["kindlin-3"],"gene_symbol":"FERMT3","hgnc_symbol":"FERMT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63974150-63991354","ensembl_id":"ENSG00000149781"}},"GRch38":{"90":{"location":"11:64206678-64223886","ensembl_id":"ENSG00000149781"}}},"hgnc_date_symbol_changed":"2007-12-14"},"entity_type":"gene","entity_name":"FERMT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}