{"count":35522,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=54","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=52","results":[{"gene_data":{"alias":["FGFIBP"],"biotype":"protein_coding","hgnc_id":"HGNC:3705","gene_name":"FGF1 intracellular binding protein","omim_gene":["608296"],"alias_name":null,"gene_symbol":"FIBP","hgnc_symbol":"FIBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65651212-65656010","ensembl_id":"ENSG00000172500"}},"GRch38":{"90":{"location":"11:65883741-65888539","ensembl_id":"ENSG00000172500"}}},"hgnc_date_symbol_changed":"1999-06-07"},"entity_type":"gene","entity_name":"FIBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["40099975","37876348","36919607","27183861","26660953"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thauvin-Robinet-Faivre syndrome, MIM#617107"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4006","gene_name":"alpha-L-fucosidase 1","omim_gene":["612280"],"alias_name":["α-L-fucosidase 1","tissue fucosidase","a-L-fucosidase 1"],"gene_symbol":"FUCA1","hgnc_symbol":"FUCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24171567-24194784","ensembl_id":"ENSG00000179163"}},"GRch38":{"90":{"location":"1:23845077-23868294","ensembl_id":"ENSG00000179163"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FUCA1","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:4115","gene_name":"galactosylceramidase","omim_gene":["606890"],"alias_name":["Krabbe disease"],"gene_symbol":"GALC","hgnc_symbol":"GALC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:88304164-88460009","ensembl_id":"ENSG00000054983"}},"GRch38":{"90":{"location":"14:87837820-87993665","ensembl_id":"ENSG00000054983"}}},"hgnc_date_symbol_changed":"1989-06-02"},"entity_type":"gene","entity_name":"GALC","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":["GAS","GALNAC6S"],"biotype":"protein_coding","hgnc_id":"HGNC:4122","gene_name":"galactosamine (N-acetyl)-6-sulfatase","omim_gene":["612222"],"alias_name":["Morquio syndrome","mucopolysaccharidosis type IVA"],"gene_symbol":"GALNS","hgnc_symbol":"GALNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88880142-88923378","ensembl_id":"ENSG00000141012"}},"GRch38":{"90":{"location":"16:88813734-88856970","ensembl_id":"ENSG00000141012"}}},"hgnc_date_symbol_changed":"1992-02-21"},"entity_type":"gene","entity_name":"GALNS","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":["ACAD5"],"biotype":"protein_coding","hgnc_id":"HGNC:4189","gene_name":"glutaryl-CoA dehydrogenase","omim_gene":["608801"],"alias_name":null,"gene_symbol":"GCDH","hgnc_symbol":"GCDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13001840-13025021","ensembl_id":"ENSG00000105607"}},"GRch38":{"90":{"location":"19:12891026-12914207","ensembl_id":"ENSG00000105607"}}},"hgnc_date_symbol_changed":"1992-12-17"},"entity_type":"gene","entity_name":"GCDH","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":["FLJ45472"],"biotype":"protein_coding","hgnc_id":"HGNC:4235","gene_name":"glial fibrillary acidic protein","omim_gene":["137780"],"alias_name":["intermediate filament protein"],"gene_symbol":"GFAP","hgnc_symbol":"GFAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42982376-42994305","ensembl_id":"ENSG00000131095"}},"GRch38":{"90":{"location":"17:44903161-44916937","ensembl_id":"ENSG00000131095"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"GFAP","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":["EBP"],"biotype":"protein_coding","hgnc_id":"HGNC:4298","gene_name":"galactosidase beta 1","omim_gene":["611458"],"alias_name":null,"gene_symbol":"GLB1","hgnc_symbol":"GLB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33038100-33138722","ensembl_id":"ENSG00000170266"}},"GRch38":{"90":{"location":"3:32996608-33097230","ensembl_id":"ENSG00000170266"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLB1","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":["PAP-A","PAPA","PAPA1","PAPB","ACLS","PPDIV"],"biotype":"protein_coding","hgnc_id":"HGNC:4319","gene_name":"GLI family zinc finger 3","omim_gene":["165240"],"alias_name":["zinc finger protein GLI3","oncogene GLI3","DNA-binding protein"],"gene_symbol":"GLI3","hgnc_symbol":"GLI3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:42000548-42277469","ensembl_id":"ENSG00000106571"}},"GRch38":{"90":{"location":"7:41960950-42237870","ensembl_id":"ENSG00000106571"}}},"hgnc_date_symbol_changed":"1989-05-29"},"entity_type":"gene","entity_name":"GLI3","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":["KIAA1208","MGC4170"],"biotype":"protein_coding","hgnc_id":"HGNC:29670","gene_name":"N-acetylglucosamine-1-phosphate transferase alpha and beta subunits","omim_gene":["607840"],"alias_name":null,"gene_symbol":"GNPTAB","hgnc_symbol":"GNPTAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102139275-102224716","ensembl_id":"ENSG00000111670"}},"GRch38":{"90":{"location":"12:101745497-101830938","ensembl_id":"ENSG00000111670"}}},"hgnc_date_symbol_changed":"2005-09-11"},"entity_type":"gene","entity_name":"GNPTAB","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":["CAB56184","c316G12.3"],"biotype":"protein_coding","hgnc_id":"HGNC:23026","gene_name":"N-acetylglucosamine-1-phosphate transferase gamma subunit","omim_gene":["607838"],"alias_name":["GlcNAc-phosphotransferase gamma-subunit"],"gene_symbol":"GNPTG","hgnc_symbol":"GNPTG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1401924-1413352","ensembl_id":"ENSG00000090581"}},"GRch38":{"90":{"location":"16:1351923-1364113","ensembl_id":"ENSG00000090581"}}},"hgnc_date_symbol_changed":"2004-10-01"},"entity_type":"gene","entity_name":"GNPTG","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:4422","gene_name":"glucosamine (N-acetyl)-6-sulfatase","omim_gene":["607664"],"alias_name":["Sanfilippo disease IIID","N-acetylglucosamine-6-sulfatase"],"gene_symbol":"GNS","hgnc_symbol":"GNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:65107225-65153227","ensembl_id":"ENSG00000135677"}},"GRch38":{"90":{"location":"12:64713445-64759447","ensembl_id":"ENSG00000135677"}}},"hgnc_date_symbol_changed":"1988-06-09"},"entity_type":"gene","entity_name":"GNS","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":["OCI-5","SGBS","SGBS1","SGB","DGSX"],"biotype":"protein_coding","hgnc_id":"HGNC:4451","gene_name":"glypican 3","omim_gene":["300037"],"alias_name":["glypican proteoglycan 3"],"gene_symbol":"GPC3","hgnc_symbol":"GPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:132669773-133119922","ensembl_id":"ENSG00000147257"}},"GRch38":{"90":{"location":"X:133535745-133985895","ensembl_id":"ENSG00000147257"}}},"hgnc_date_symbol_changed":"1996-08-08"},"entity_type":"gene","entity_name":"GPC3","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:4696","gene_name":"glucuronidase beta","omim_gene":["611499"],"alias_name":null,"gene_symbol":"GUSB","hgnc_symbol":"GUSB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:65425671-65447301","ensembl_id":"ENSG00000169919"}},"GRch38":{"90":{"location":"7:65960684-65982314","ensembl_id":"ENSG00000169919"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GUSB","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:4878","gene_name":"hexosaminidase subunit alpha","omim_gene":["606869"],"alias_name":["Tay Sachs disease","GM2 gangliosidosis","beta-hexosaminidase subunit alpha"],"gene_symbol":"HEXA","hgnc_symbol":"HEXA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72635775-72668817","ensembl_id":"ENSG00000213614"}},"GRch38":{"90":{"location":"15:72340919-72376476","ensembl_id":"ENSG00000213614"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXA","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:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","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":["FLJ32731","HGNAT"],"biotype":"protein_coding","hgnc_id":"HGNC:26527","gene_name":"heparan-alpha-glucosaminide N-acetyltransferase","omim_gene":["610453"],"alias_name":null,"gene_symbol":"HGSNAT","hgnc_symbol":"HGSNAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42995556-43057998","ensembl_id":"ENSG00000165102"}},"GRch38":{"90":{"location":"8:43140455-43202855","ensembl_id":"ENSG00000165102"}}},"hgnc_date_symbol_changed":"2006-08-16"},"entity_type":"gene","entity_name":"HGSNAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31536183"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930","MONDO:0009657"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:5173","gene_name":"HRas proto-oncogene, GTPase","omim_gene":["190020"],"alias_name":null,"gene_symbol":"HRAS","hgnc_symbol":"HRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}},"GRch38":{"90":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HRAS","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":["LUCA1","HYAL-1","FUS2","NAT6"],"biotype":"protein_coding","hgnc_id":"HGNC:5320","gene_name":"hyaluronoglucosaminidase 1","omim_gene":["607071"],"alias_name":null,"gene_symbol":"HYAL1","hgnc_symbol":"HYAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50337320-50349812","ensembl_id":"ENSG00000114378"}},"GRch38":{"90":{"location":"3:50299889-50312381","ensembl_id":"ENSG00000114378"}}},"hgnc_date_symbol_changed":"1997-10-09"},"entity_type":"gene","entity_name":"HYAL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10339581","18344557","21559944"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mucopolysaccharidosis type IX, MIM# 601492","MONDO:0011093"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:5389","gene_name":"iduronate 2-sulfatase","omim_gene":["300823"],"alias_name":["Hunter syndrome"],"gene_symbol":"IDS","hgnc_symbol":"IDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:148558521-148615470","ensembl_id":"ENSG00000010404"}},"GRch38":{"90":{"location":"X:149476990-149521096","ensembl_id":"ENSG00000010404"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDS","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":["MPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:5391","gene_name":"iduronidase, alpha-L-","omim_gene":["252800"],"alias_name":null,"gene_symbol":"IDUA","hgnc_symbol":"IDUA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:980785-998316","ensembl_id":"ENSG00000127415"}},"GRch38":{"90":{"location":"4:986997-1004506","ensembl_id":"ENSG00000127415"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDUA","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":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","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":["JBTS12"],"biotype":"protein_coding","hgnc_id":"HGNC:30497","gene_name":"kinesin family member 7","omim_gene":["611254"],"alias_name":null,"gene_symbol":"KIF7","hgnc_symbol":"KIF7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90152020-90198682","ensembl_id":"ENSG00000166813"}},"GRch38":{"90":{"location":"15:89608789-89655451","ensembl_id":"ENSG00000166813"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"KIF7","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":["HDCMC04P"],"biotype":"protein_coding","hgnc_id":"HGNC:18541","gene_name":"lysine methyltransferase 2E","omim_gene":["608444"],"alias_name":null,"gene_symbol":"KMT2E","hgnc_symbol":"KMT2E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:104654626-104754808","ensembl_id":"ENSG00000005483"}},"GRch38":{"90":{"location":"7:105014179-105114361","ensembl_id":"ENSG00000005483"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2E","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":["KRAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6407","gene_name":"KRAS proto-oncogene, GTPase","omim_gene":["190070"],"alias_name":null,"gene_symbol":"KRAS","hgnc_symbol":"KRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:25357723-25403870","ensembl_id":"ENSG00000133703"}},"GRch38":{"90":{"location":"12:25204789-25250936","ensembl_id":"ENSG00000133703"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"KRAS","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":["FLJ12618"],"biotype":"protein_coding","hgnc_id":"HGNC:20499","gene_name":"L-2-hydroxyglutarate dehydrogenase","omim_gene":["609584"],"alias_name":["2-hydroxyglutarate dehydrogenase"],"gene_symbol":"L2HGDH","hgnc_symbol":"L2HGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50704281-50779266","ensembl_id":"ENSG00000087299"}},"GRch38":{"90":{"location":"14:50237563-50312548","ensembl_id":"ENSG00000087299"}}},"hgnc_date_symbol_changed":"2005-05-25"},"entity_type":"gene","entity_name":"L2HGDH","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":["MAN1"],"biotype":"protein_coding","hgnc_id":"HGNC:28887","gene_name":"LEM domain containing 3","omim_gene":["607844"],"alias_name":null,"gene_symbol":"LEMD3","hgnc_symbol":"LEMD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:65563351-65642107","ensembl_id":"ENSG00000174106"}},"GRch38":{"90":{"location":"12:65169571-65248327","ensembl_id":"ENSG00000174106"}}},"hgnc_date_symbol_changed":"2004-11-01"},"entity_type":"gene","entity_name":"LEMD3","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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"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":["LZTR-1","BTBD29"],"biotype":"protein_coding","hgnc_id":"HGNC:6742","gene_name":"leucine zipper like transcription regulator 1","omim_gene":["600574"],"alias_name":null,"gene_symbol":"LZTR1","hgnc_symbol":"LZTR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21333751-21353327","ensembl_id":"ENSG00000099949"}},"GRch38":{"90":{"location":"22:20979462-20999038","ensembl_id":"ENSG00000099949"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"LZTR1","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":["LAMAN"],"biotype":"protein_coding","hgnc_id":"HGNC:6826","gene_name":"mannosidase alpha class 2B member 1","omim_gene":["609458"],"alias_name":null,"gene_symbol":"MAN2B1","hgnc_symbol":"MAN2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12757325-12777556","ensembl_id":"ENSG00000104774"}},"GRch38":{"90":{"location":"19:12646511-12666742","ensembl_id":"ENSG00000104774"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MAN2B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"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:6831","gene_name":"mannosidase beta","omim_gene":["609489"],"alias_name":["beta-mannosidase A"],"gene_symbol":"MANBA","hgnc_symbol":"MANBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103552660-103682151","ensembl_id":"ENSG00000109323"}},"GRch38":{"90":{"location":"4:102631488-102760994","ensembl_id":"ENSG00000109323"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"MANBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["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":["MEK1","MAPKK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6840","gene_name":"mitogen-activated protein kinase kinase 1","omim_gene":["176872"],"alias_name":null,"gene_symbol":"MAP2K1","hgnc_symbol":"MAP2K1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:66679155-66784650","ensembl_id":"ENSG00000169032"}},"GRch38":{"90":{"location":"15:66386817-66492312","ensembl_id":"ENSG00000169032"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"MAP2K1","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":["MEK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6842","gene_name":"mitogen-activated protein kinase kinase 2","omim_gene":["601263"],"alias_name":null,"gene_symbol":"MAP2K2","hgnc_symbol":"MAP2K2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4090319-4124126","ensembl_id":"ENSG00000126934"}},"GRch38":{"90":{"location":"19:4090321-4124129","ensembl_id":"ENSG00000126934"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"MAP2K2","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":["TRPML1","ML4","MLIV","MST080","MSTP080","TRPM-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:13356","gene_name":"mucolipin 1","omim_gene":["605248"],"alias_name":null,"gene_symbol":"MCOLN1","hgnc_symbol":"MCOLN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7587512-7598895","ensembl_id":"ENSG00000090674"}},"GRch38":{"90":{"location":"19:7522626-7534009","ensembl_id":"ENSG00000090674"}}},"hgnc_date_symbol_changed":"2000-09-19"},"entity_type":"gene","entity_name":"MCOLN1","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":["CAGH45","HOPA","OPA1","TRAP230","KIAA0192","OKS"],"biotype":"protein_coding","hgnc_id":"HGNC:11957","gene_name":"mediator complex subunit 12","omim_gene":["300188"],"alias_name":null,"gene_symbol":"MED12","hgnc_symbol":"MED12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70338406-70362303","ensembl_id":"ENSG00000184634"}},"GRch38":{"90":{"location":"X:71118556-71142454","ensembl_id":"ENSG00000184634"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"MED12","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":["RAFT1","RAPT1","FLJ44809"],"biotype":"protein_coding","hgnc_id":"HGNC:3942","gene_name":"mechanistic target of rapamycin kinase","omim_gene":["601231"],"alias_name":["FK506 binding protein 12-rapamycin associated protein 2","rapamycin target protein","FKBP12-rapamycin complex-associated protein 1","FKBP-rapamycin associated protein","rapamycin associated protein FRAP2","dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)","rapamycin and FKBP12 target 1","mammalian target of rapamycin"],"gene_symbol":"MTOR","hgnc_symbol":"MTOR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11166592-11322564","ensembl_id":"ENSG00000198793"}},"GRch38":{"90":{"location":"1:11106535-11262507","ensembl_id":"ENSG00000198793"}}},"hgnc_date_symbol_changed":"2009-05-29"},"entity_type":"gene","entity_name":"MTOR","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":["D22S674"],"biotype":"protein_coding","hgnc_id":"HGNC:7631","gene_name":"alpha-N-acetylgalactosaminidase","omim_gene":["104170"],"alias_name":null,"gene_symbol":"NAGA","hgnc_symbol":"NAGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42454358-42466846","ensembl_id":"ENSG00000198951"}},"GRch38":{"90":{"location":"22:42058354-42070842","ensembl_id":"ENSG00000198951"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NAGA","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":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","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:7758","gene_name":"neuraminidase 1","omim_gene":["608272"],"alias_name":null,"gene_symbol":"NEU1","hgnc_symbol":"NEU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31825436-31830683","ensembl_id":"ENSG00000204386"}},"GRch38":{"90":{"location":"6:31857659-31862906","ensembl_id":"ENSG00000204386"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEU1","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:7765","gene_name":"neurofibromin 1","omim_gene":["613113"],"alias_name":["neurofibromatosis","von Recklinghausen disease","Watson disease"],"gene_symbol":"NF1","hgnc_symbol":"NF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:29421945-29709134","ensembl_id":"ENSG00000196712"}},"GRch38":{"90":{"location":"17:31094927-31382116","ensembl_id":"ENSG00000196712"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NF1","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":["NFI-RED","NFIB2","NFIB3"],"biotype":"protein_coding","hgnc_id":"HGNC:7785","gene_name":"nuclear factor I B","omim_gene":["600728"],"alias_name":null,"gene_symbol":"NFIB","hgnc_symbol":"NFIB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:14081842-14398982","ensembl_id":"ENSG00000147862"}},"GRch38":{"90":{"location":"9:14081843-14398983","ensembl_id":"ENSG00000147862"}}},"hgnc_date_symbol_changed":"1995-03-09"},"entity_type":"gene","entity_name":"NFIB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30388402"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macrocephaly, acquired, with impaired intellectual development, MIM#618286"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"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":["NF1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7788","gene_name":"nuclear factor I X","omim_gene":["164005"],"alias_name":["CCAAT-binding transcription factor"],"gene_symbol":"NFIX","hgnc_symbol":"NFIX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13106422-13209610","ensembl_id":"ENSG00000008441"}},"GRch38":{"90":{"location":"19:12995608-13098796","ensembl_id":"ENSG00000008441"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"NFIX","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","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":["ARA267","FLJ22263","KMT3B"],"biotype":"protein_coding","hgnc_id":"HGNC:14234","gene_name":"nuclear receptor binding SET domain protein 1","omim_gene":["606681"],"alias_name":null,"gene_symbol":"NSD1","hgnc_symbol":"NSD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:176560026-176727216","ensembl_id":"ENSG00000165671"}},"GRch38":{"90":{"location":"5:177133025-177300215","ensembl_id":"ENSG00000165671"}}},"hgnc_date_symbol_changed":"2002-02-25"},"entity_type":"gene","entity_name":"NSD1","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":["71-7A","JBTS10"],"biotype":"protein_coding","hgnc_id":"HGNC:2567","gene_name":"OFD1, centriole and centriolar satellite protein","omim_gene":["300170"],"alias_name":null,"gene_symbol":"OFD1","hgnc_symbol":"OFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13752832-13787480","ensembl_id":"ENSG00000046651"}},"GRch38":{"90":{"location":"X:13734745-13769353","ensembl_id":"ENSG00000046651"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"OFD1","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":["HSPC019","GL"],"biotype":"protein_coding","hgnc_id":"HGNC:21652","gene_name":"osteopetrosis associated transmembrane protein 1","omim_gene":["607649"],"alias_name":["CLCN7 accessory beta subunit"],"gene_symbol":"OSTM1","hgnc_symbol":"OSTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:108362613-108487058","ensembl_id":"ENSG00000081087"}},"GRch38":{"90":{"location":"6:108041409-108165854","ensembl_id":"ENSG00000081087"}}},"hgnc_date_symbol_changed":"2003-10-06"},"entity_type":"gene","entity_name":"OSTM1","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":["JTK12","CD140b","PDGFR1"],"biotype":"protein_coding","hgnc_id":"HGNC:8804","gene_name":"platelet derived growth factor receptor beta","omim_gene":["173410"],"alias_name":null,"gene_symbol":"PDGFRB","hgnc_symbol":"PDGFRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149493400-149535435","ensembl_id":"ENSG00000113721"}},"GRch38":{"90":{"location":"5:150113837-150155872","ensembl_id":"ENSG00000113721"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PDGFRB","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":["KIAA1823","MGC14797","CENP-31"],"biotype":"protein_coding","hgnc_id":"HGNC:18145","gene_name":"PHD finger protein 6","omim_gene":["300414"],"alias_name":["centromere protein 31"],"gene_symbol":"PHF6","hgnc_symbol":"PHF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:133507283-133562820","ensembl_id":"ENSG00000156531"}},"GRch38":{"90":{"location":"X:134373253-134428791","ensembl_id":"ENSG00000156531"}}},"hgnc_date_symbol_changed":"2002-02-28"},"entity_type":"gene","entity_name":"PHF6","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":["PI3K"],"biotype":"protein_coding","hgnc_id":"HGNC:8975","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","omim_gene":["171834"],"alias_name":null,"gene_symbol":"PIK3CA","hgnc_symbol":"PIK3CA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:178865902-178957881","ensembl_id":"ENSG00000121879"}},"GRch38":{"90":{"location":"3:179148114-179240093","ensembl_id":"ENSG00000121879"}}},"hgnc_date_symbol_changed":"1994-07-15"},"entity_type":"gene","entity_name":"PIK3CA","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":["P85B","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8980","gene_name":"phosphoinositide-3-kinase regulatory subunit 2","omim_gene":["603157"],"alias_name":["phosphoinositide-3-kinase regulatory subunit beta"],"gene_symbol":"PIK3R2","hgnc_symbol":"PIK3R2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18263928-18281350","ensembl_id":"ENSG00000105647"}},"GRch38":{"90":{"location":"19:18153118-18170540","ensembl_id":"ENSG00000105647"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R2","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":["KIAA0356"],"biotype":"protein_coding","hgnc_id":"HGNC:29017","gene_name":"pleckstrin homology and RUN domain containing M1","omim_gene":["611466"],"alias_name":null,"gene_symbol":"PLEKHM1","hgnc_symbol":"PLEKHM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:43513266-43568115","ensembl_id":"ENSG00000225190"}},"GRch38":{"90":{"location":"17:45435900-45490749","ensembl_id":"ENSG00000225190"}}},"hgnc_date_symbol_changed":"2004-02-27"},"entity_type":"gene","entity_name":"PLEKHM1","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":["PP1B","PP-1B","PP1beta"],"biotype":"protein_coding","hgnc_id":"HGNC:9282","gene_name":"protein phosphatase 1 catalytic subunit beta","omim_gene":["600590"],"alias_name":null,"gene_symbol":"PPP1CB","hgnc_symbol":"PPP1CB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:28974506-29025806","ensembl_id":"ENSG00000213639"}},"GRch38":{"90":{"location":"2:28751640-28802940","ensembl_id":"ENSG00000213639"}}},"hgnc_date_symbol_changed":"1993-01-22"},"entity_type":"gene","entity_name":"PPP1CB","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:9498","gene_name":"prosaposin","omim_gene":["176801"],"alias_name":["variant Gaucher disease and variant metachromatic leukodystrophy"],"gene_symbol":"PSAP","hgnc_symbol":"PSAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73576055-73611126","ensembl_id":"ENSG00000197746"}},"GRch38":{"90":{"location":"10:71816298-71851375","ensembl_id":"ENSG00000197746"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PSAP","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":["BCNS"],"biotype":"protein_coding","hgnc_id":"HGNC:9585","gene_name":"patched 1","omim_gene":["601309"],"alias_name":null,"gene_symbol":"PTCH1","hgnc_symbol":"PTCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:98205262-98279339","ensembl_id":"ENSG00000185920"}},"GRch38":{"90":{"location":"9:95442980-95517057","ensembl_id":"ENSG00000185920"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"PTCH1","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:9586","gene_name":"patched 2","omim_gene":["603673"],"alias_name":null,"gene_symbol":"PTCH2","hgnc_symbol":"PTCH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45285516-45308735","ensembl_id":"ENSG00000117425"}},"GRch38":{"90":{"location":"1:44819844-44843063","ensembl_id":"ENSG00000117425"}}},"hgnc_date_symbol_changed":"1998-10-19"},"entity_type":"gene","entity_name":"PTCH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30820324","23479190","18285427"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Basal cell nevus syndrome, MIM#109400"],"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":["MMAC1","TEP1","PTEN1"],"biotype":"protein_coding","hgnc_id":"HGNC:9588","gene_name":"phosphatase and tensin homolog","omim_gene":["601728"],"alias_name":["mutated in multiple advanced cancers 1"],"gene_symbol":"PTEN","hgnc_symbol":"PTEN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89622870-89731687","ensembl_id":"ENSG00000171862"}},"GRch38":{"90":{"location":"10:87863113-87971930","ensembl_id":"ENSG00000171862"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"PTEN","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:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","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":["BPTP3","SH-PTP2","SHP-2","PTP2C","SHP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9644","gene_name":"protein tyrosine phosphatase, non-receptor type 11","omim_gene":["176876"],"alias_name":null,"gene_symbol":"PTPN11","hgnc_symbol":"PTPN11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112856155-112947717","ensembl_id":"ENSG00000179295"}},"GRch38":{"90":{"location":"12:112418351-112509913","ensembl_id":"ENSG00000179295"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"PTPN11","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":["RAB39","RAH","NARR"],"biotype":"protein_coding","hgnc_id":"HGNC:16519","gene_name":"RAB34, member RAS oncogene family","omim_gene":["610917"],"alias_name":["nine-amino acid residue-repeats"],"gene_symbol":"RAB34","hgnc_symbol":"RAB34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:27041299-27045447","ensembl_id":"ENSG00000109113"}},"GRch38":{"90":{"location":"17:28714281-28718429","ensembl_id":"ENSG00000109113"}}},"hgnc_date_symbol_changed":"2001-09-14"},"entity_type":"gene","entity_name":"RAB34","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":["Raf-1","c-Raf","CRAF"],"biotype":"protein_coding","hgnc_id":"HGNC:9829","gene_name":"Raf-1 proto-oncogene, serine/threonine kinase","omim_gene":["164760"],"alias_name":["C-Raf proto-oncogene, serine/threonine kinase"],"gene_symbol":"RAF1","hgnc_symbol":"RAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:12625100-12705725","ensembl_id":"ENSG00000132155"}},"GRch38":{"90":{"location":"3:12583601-12664226","ensembl_id":"ENSG00000132155"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RAF1","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":["GAP1M"],"biotype":"protein_coding","hgnc_id":"HGNC:9872","gene_name":"RAS p21 protein activator 2","omim_gene":["601589"],"alias_name":null,"gene_symbol":"RASA2","hgnc_symbol":"RASA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:141205889-141334184","ensembl_id":"ENSG00000155903"}},"GRch38":{"90":{"location":"3:141487047-141615342","ensembl_id":"ENSG00000155903"}}},"hgnc_date_symbol_changed":"1996-11-15"},"entity_type":"gene","entity_name":"RASA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25049390","30311384"],"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":["CALDAG-GEFI"],"biotype":"protein_coding","hgnc_id":"HGNC:9879","gene_name":"RAS guanyl releasing protein 2","omim_gene":["605577"],"alias_name":["calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I"],"gene_symbol":"RASGRP2","hgnc_symbol":"RASGRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64494383-64512928","ensembl_id":"ENSG00000068831"}},"GRch38":{"90":{"location":"11:64726911-64745456","ensembl_id":"ENSG00000068831"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"RASGRP2","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:10011","gene_name":"Ras homolog, mTORC1 binding","omim_gene":["601293"],"alias_name":null,"gene_symbol":"RHEB","hgnc_symbol":"RHEB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:151163098-151217206","ensembl_id":"ENSG00000106615"}},"GRch38":{"90":{"location":"7:151466012-151520120","ensembl_id":"ENSG00000106615"}}},"hgnc_date_symbol_changed":"2003-07-14"},"entity_type":"gene","entity_name":"RHEB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31337748","29051493","39993836"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, RHEB-related"],"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":["RASSF4"],"biotype":"protein_coding","hgnc_id":"HGNC:18750","gene_name":"Ras and Rab interactor 2","omim_gene":["610222"],"alias_name":null,"gene_symbol":"RIN2","hgnc_symbol":"RIN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:19867165-19983101","ensembl_id":"ENSG00000132669"}},"GRch38":{"90":{"location":"20:19886521-20002457","ensembl_id":"ENSG00000132669"}}},"hgnc_date_symbol_changed":"2002-09-11"},"entity_type":"gene","entity_name":"RIN2","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":["RIBB","ROC1","MGC125864","MGC125865"],"biotype":"protein_coding","hgnc_id":"HGNC:10023","gene_name":"Ras like without CAAX 1","omim_gene":["609591"],"alias_name":["Ric-like, expressed in many tissues","GTP-binding protein Roc1"],"gene_symbol":"RIT1","hgnc_symbol":"RIT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155867599-155881195","ensembl_id":"ENSG00000143622"}},"GRch38":{"90":{"location":"1:155897808-155911404","ensembl_id":"ENSG00000143622"}}},"hgnc_date_symbol_changed":"2002-09-13"},"entity_type":"gene","entity_name":"RIT1","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":["FLJ20456"],"biotype":"protein_coding","hgnc_id":"HGNC:21150","gene_name":"ring finger protein 125","omim_gene":["610432"],"alias_name":null,"gene_symbol":"RNF125","hgnc_symbol":"RNF125","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:29598335-29653176","ensembl_id":"ENSG00000101695"}},"GRch38":{"90":{"location":"18:32018372-32073213","ensembl_id":"ENSG00000101695"}}},"hgnc_date_symbol_changed":"2003-05-21"},"entity_type":"gene","entity_name":"RNF125","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":["MGC13061"],"biotype":"protein_coding","hgnc_id":"HGNC:21158","gene_name":"ring finger protein 135","omim_gene":["611358"],"alias_name":["riplet"],"gene_symbol":"RNF135","hgnc_symbol":"RNF135","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:29295803-29326929","ensembl_id":"ENSG00000181481"}},"GRch38":{"90":{"location":"17:30968785-30999911","ensembl_id":"ENSG00000181481"}}},"hgnc_date_symbol_changed":"2003-05-21"},"entity_type":"gene","entity_name":"RNF135","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","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":["R-Ras"],"biotype":"protein_coding","hgnc_id":"HGNC:10447","gene_name":"RAS related","omim_gene":["165090"],"alias_name":["Oncogene RRAS"],"gene_symbol":"RRAS","hgnc_symbol":"RRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50138549-50143458","ensembl_id":"ENSG00000126458"}},"GRch38":{"90":{"location":"19:49635292-49640201","ensembl_id":"ENSG00000126458"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"RRAS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24705357","32815881"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome, MONDO:0018997"],"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":["HYPB","HIF-1","KIAA1732","FLJ23184","KMT3A"],"biotype":"protein_coding","hgnc_id":"HGNC:18420","gene_name":"SET domain containing 2","omim_gene":["612778"],"alias_name":null,"gene_symbol":"SETD2","hgnc_symbol":"SETD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47057919-47205457","ensembl_id":"ENSG00000181555"}},"GRch38":{"90":{"location":"3:47016429-47163967","ensembl_id":"ENSG00000181555"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"SETD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29681085"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Luscan-Lumish syndrome, MIM#616831"],"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":["HSS","MPS3A","SFMD"],"biotype":"protein_coding","hgnc_id":"HGNC:10818","gene_name":"N-sulfoglucosamine sulfohydrolase","omim_gene":["605270"],"alias_name":["sulfamidase","mucopolysaccharidosis type IIIA"],"gene_symbol":"SGSH","hgnc_symbol":"SGSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78180515-78194722","ensembl_id":"ENSG00000181523"}},"GRch38":{"90":{"location":"17:80206716-80220923","ensembl_id":"ENSG00000181523"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"SGSH","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":["KIAA0862","SOC2","SUR-8","SOC-2","SUR8"],"biotype":"protein_coding","hgnc_id":"HGNC:15454","gene_name":"SHOC2, leucine rich repeat scaffold protein","omim_gene":["602775"],"alias_name":null,"gene_symbol":"SHOC2","hgnc_symbol":"SHOC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112679301-112773425","ensembl_id":"ENSG00000108061"}},"GRch38":{"90":{"location":"10:110919547-111013667","ensembl_id":"ENSG00000108061"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"SHOC2","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":["AST","SD","ISSD","NSD","SIALIN","SLD"],"biotype":"protein_coding","hgnc_id":"HGNC:10933","gene_name":"solute carrier family 17 member 5","omim_gene":["604322"],"alias_name":null,"gene_symbol":"SLC17A5","hgnc_symbol":"SLC17A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74303102-74363878","ensembl_id":"ENSG00000119899"}},"GRch38":{"90":{"location":"6:73593379-73654155","ensembl_id":"ENSG00000119899"}}},"hgnc_date_symbol_changed":"2000-01-06"},"entity_type":"gene","entity_name":"SLC17A5","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":["CTP"],"biotype":"protein_coding","hgnc_id":"HGNC:10979","gene_name":"solute carrier family 25 member 1","omim_gene":["190315"],"alias_name":null,"gene_symbol":"SLC25A1","hgnc_symbol":"SLC25A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19163095-19166343","ensembl_id":"ENSG00000100075"}},"GRch38":{"90":{"location":"22:19175575-19178830","ensembl_id":"ENSG00000100075"}}},"hgnc_date_symbol_changed":"1996-08-01"},"entity_type":"gene","entity_name":"SLC25A1","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:14974","gene_name":"sorting nexin 10","omim_gene":["614780"],"alias_name":null,"gene_symbol":"SNX10","hgnc_symbol":"SNX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:26331541-26413949","ensembl_id":"ENSG00000086300"}},"GRch38":{"90":{"location":"7:26291895-26374329","ensembl_id":"ENSG00000086300"}}},"hgnc_date_symbol_changed":"2001-04-10"},"entity_type":"gene","entity_name":"SNX10","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":["HGF","GF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11187","gene_name":"SOS Ras/Rac guanine nucleotide exchange factor 1","omim_gene":["182530"],"alias_name":null,"gene_symbol":"SOS1","hgnc_symbol":"SOS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:39208537-39351486","ensembl_id":"ENSG00000115904"}},"GRch38":{"90":{"location":"2:38981396-39124345","ensembl_id":"ENSG00000115904"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"SOS1","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:11188","gene_name":"SOS Ras/Rho guanine nucleotide exchange factor 2","omim_gene":["601247"],"alias_name":null,"gene_symbol":"SOS2","hgnc_symbol":"SOS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50583847-50698276","ensembl_id":"ENSG00000100485"}},"GRch38":{"90":{"location":"14:50117120-50231558","ensembl_id":"ENSG00000100485"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"SOS2","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":["VBCH","DAND6"],"biotype":"protein_coding","hgnc_id":"HGNC:13771","gene_name":"sclerostin","omim_gene":["605740"],"alias_name":null,"gene_symbol":"SOST","hgnc_symbol":"SOST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41831099-41836156","ensembl_id":"ENSG00000167941"}},"GRch38":{"90":{"location":"17:43753731-43758788","ensembl_id":"ENSG00000167941"}}},"hgnc_date_symbol_changed":"2002-02-20"},"entity_type":"gene","entity_name":"SOST","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":["FLJ33903","PPP1R147"],"biotype":"protein_coding","hgnc_id":"HGNC:20249","gene_name":"sprouty related EVH1 domain containing 1","omim_gene":["609291"],"alias_name":["protein phosphatase 1, regulatory subunit 147"],"gene_symbol":"SPRED1","hgnc_symbol":"SPRED1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:38544527-38649450","ensembl_id":"ENSG00000166068"}},"GRch38":{"90":{"location":"15:38252326-38357249","ensembl_id":"ENSG00000166068"}}},"hgnc_date_symbol_changed":"2003-01-24"},"entity_type":"gene","entity_name":"SPRED1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17704776","19366998","21548021"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Legius syndrome, MIM# 611431"],"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":["NY-BR-96","LYK5","Stlk","STRAD"],"biotype":"protein_coding","hgnc_id":"HGNC:30172","gene_name":"STE20-related kinase adaptor alpha","omim_gene":["608626"],"alias_name":["STE20-like pseudokinase"],"gene_symbol":"STRADA","hgnc_symbol":"STRADA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61780192-61819330","ensembl_id":"ENSG00000266173"}},"GRch38":{"90":{"location":"17:63682336-63741986","ensembl_id":"ENSG00000266173"}}},"hgnc_date_symbol_changed":"2008-09-15"},"entity_type":"gene","entity_name":"STRADA","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":["SUFUH","SUFUXL","PRO1280"],"biotype":"protein_coding","hgnc_id":"HGNC:16466","gene_name":"SUFU negative regulator of hedgehog signaling","omim_gene":["607035"],"alias_name":null,"gene_symbol":"SUFU","hgnc_symbol":"SUFU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104263744-104393292","ensembl_id":"ENSG00000107882"}},"GRch38":{"90":{"location":"10:102503987-102633535","ensembl_id":"ENSG00000107882"}}},"hgnc_date_symbol_changed":"2001-08-28"},"entity_type":"gene","entity_name":"SUFU","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":["JJAZ1","KIAA0160","CHET9"],"biotype":"protein_coding","hgnc_id":"HGNC:17101","gene_name":"SUZ12 polycomb repressive complex 2 subunit","omim_gene":["606245"],"alias_name":null,"gene_symbol":"SUZ12","hgnc_symbol":"SUZ12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:30264037-30328064","ensembl_id":"ENSG00000178691"}},"GRch38":{"90":{"location":"17:31937018-32001045","ensembl_id":"ENSG00000178691"}}},"hgnc_date_symbol_changed":"2004-12-14"},"entity_type":"gene","entity_name":"SUZ12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31736240","28229514"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Imagawa-Matsumoto syndrome, MIM# 618786"],"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":["KIAA1361","MARKK","PSK2","MAP3K16","FLJ14314","TAO1"],"biotype":"protein_coding","hgnc_id":"HGNC:29259","gene_name":"TAO kinase 1","omim_gene":["610266"],"alias_name":null,"gene_symbol":"TAOK1","hgnc_symbol":"TAOK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:27717482-27878922","ensembl_id":"ENSG00000160551"}},"GRch38":{"90":{"location":"17:29390464-29551904","ensembl_id":"ENSG00000160551"}}},"hgnc_date_symbol_changed":"2004-10-20"},"entity_type":"gene","entity_name":"TAOK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31230721"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575","Intellectual disability","macrocephaly"],"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":["dJ257A7.3","FLJ32666"],"biotype":"protein_coding","hgnc_id":"HGNC:21066","gene_name":"TBC1 domain family member 7","omim_gene":["612655"],"alias_name":["TS complex subunit 3"],"gene_symbol":"TBC1D7","hgnc_symbol":"TBC1D7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:13266774-13328815","ensembl_id":"ENSG00000145979"}},"GRch38":{"90":{"location":"6:13266542-13328583","ensembl_id":"ENSG00000145979"}}},"hgnc_date_symbol_changed":"2003-05-14"},"entity_type":"gene","entity_name":"TBC1D7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24515783","23687350","36669495"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000"],"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":["MGC16169","HSPC302"],"biotype":"protein_coding","hgnc_id":"HGNC:28261","gene_name":"TBC1 domain containing kinase","omim_gene":["616899"],"alias_name":null,"gene_symbol":"TBCK","hgnc_symbol":"TBCK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:106962756-107242652","ensembl_id":"ENSG00000145348"}},"GRch38":{"90":{"location":"4:106041599-106321495","ensembl_id":"ENSG00000145348"}}},"hgnc_date_symbol_changed":"2009-08-26"},"entity_type":"gene","entity_name":"TBCK","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":["AR1","SPBP"],"biotype":"protein_coding","hgnc_id":"HGNC:11631","gene_name":"transcription factor 20","omim_gene":["603107"],"alias_name":["stromelysin-1 platelet-derived growth factor-responsive element binding protein"],"gene_symbol":"TCF20","hgnc_symbol":"TCF20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42556019-42739622","ensembl_id":"ENSG00000100207"}},"GRch38":{"90":{"location":"22:42160013-42343616","ensembl_id":"ENSG00000100207"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"TCF20","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":["TIRC7","OC-116","OC116","ATP6N1C","Atp6i","a3","ATP6V0A3"],"biotype":"protein_coding","hgnc_id":"HGNC:11647","gene_name":"T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3","omim_gene":["604592"],"alias_name":["T-cell immune response cDNA 7"],"gene_symbol":"TCIRG1","hgnc_symbol":"TCIRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67806483-67818362","ensembl_id":"ENSG00000110719"}},"GRch38":{"90":{"location":"11:68039016-68050895","ensembl_id":"ENSG00000110719"}}},"hgnc_date_symbol_changed":"1999-02-15"},"entity_type":"gene","entity_name":"TCIRG1","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":["CED","TGFbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:11766","gene_name":"transforming growth factor beta 1","omim_gene":["190180"],"alias_name":["Camurati-Engelmann disease","prepro-transforming growth factor beta-1"],"gene_symbol":"TGFB1","hgnc_symbol":"TGFB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41807492-41859816","ensembl_id":"ENSG00000105329"}},"GRch38":{"90":{"location":"19:41301587-41353911","ensembl_id":"ENSG00000105329"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TGFB1","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":["RANK","CD265","FEO"],"biotype":"protein_coding","hgnc_id":"HGNC:11908","gene_name":"TNF receptor superfamily member 11a","omim_gene":["603499"],"alias_name":null,"gene_symbol":"TNFRSF11A","hgnc_symbol":"TNFRSF11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:59992520-60058516","ensembl_id":"ENSG00000141655"}},"GRch38":{"90":{"location":"18:62325287-62391292","ensembl_id":"ENSG00000141655"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFRSF11A","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":["TRANCE","RANKL","OPGL","ODF","CD254"],"biotype":"protein_coding","hgnc_id":"HGNC:11926","gene_name":"TNF superfamily member 11","omim_gene":["602642"],"alias_name":null,"gene_symbol":"TNFSF11","hgnc_symbol":"TNFSF11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:43136872-43182149","ensembl_id":"ENSG00000120659"}},"GRch38":{"90":{"location":"13:42562736-42608013","ensembl_id":"ENSG00000120659"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFSF11","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":["RNF119","DKFZp586I021","MGC7807"],"biotype":"protein_coding","hgnc_id":"HGNC:20456","gene_name":"TNF receptor associated factor 7","omim_gene":["606692"],"alias_name":null,"gene_symbol":"TRAF7","hgnc_symbol":"TRAF7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2205699-2228130","ensembl_id":"ENSG00000131653"}},"GRch38":{"90":{"location":"16:2155698-2178129","ensembl_id":"ENSG00000131653"}}},"hgnc_date_symbol_changed":"2004-06-04"},"entity_type":"gene","entity_name":"TRAF7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32376980"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164"],"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":["DAP12","PLO-SL","KARAP"],"biotype":"protein_coding","hgnc_id":"HGNC:12449","gene_name":"TYRO protein tyrosine kinase binding protein","omim_gene":["604142"],"alias_name":["killer activating receptor associated protein","DNAX-activation protein 12"],"gene_symbol":"TYROBP","hgnc_symbol":"TYROBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36395303-36399197","ensembl_id":"ENSG00000011600"}},"GRch38":{"90":{"location":"19:35904401-35908295","ensembl_id":"ENSG00000011600"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"TYROBP","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":["ZNF379","CGI-89","ZNF380"],"biotype":"protein_coding","hgnc_id":"HGNC:18475","gene_name":"zinc finger DHHC-type containing 9","omim_gene":["300646"],"alias_name":null,"gene_symbol":"ZDHHC9","hgnc_symbol":"ZDHHC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:128937264-128977885","ensembl_id":"ENSG00000188706"}},"GRch38":{"90":{"location":"X:129803288-129843909","ensembl_id":"ENSG00000188706"}}},"hgnc_date_symbol_changed":"2002-04-05"},"entity_type":"gene","entity_name":"ZDHHC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29681091"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM#\t300799"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["KIAA0155","TSBP","p150TSP"],"biotype":"protein_coding","hgnc_id":"HGNC:16850","gene_name":"CTR9 homolog, Paf1/RNA polymerase II complex component","omim_gene":["609366"],"alias_name":null,"gene_symbol":"CTR9","hgnc_symbol":"CTR9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:10772534-10801290","ensembl_id":"ENSG00000198730"}},"GRch38":{"90":{"location":"11:10750987-10779743","ensembl_id":"ENSG00000198730"}}},"hgnc_date_symbol_changed":"2006-05-22"},"entity_type":"gene","entity_name":"CTR9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35499524","35717577"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), CTR9 related","Macrocephaly"],"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":["B56D","B56delta"],"biotype":"protein_coding","hgnc_id":"HGNC:9312","gene_name":"protein phosphatase 2 regulatory subunit B'delta","omim_gene":["601646"],"alias_name":null,"gene_symbol":"PPP2R5D","hgnc_symbol":"PPP2R5D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42952237-42980080","ensembl_id":"ENSG00000112640"}},"GRch38":{"90":{"location":"6:42984499-43012342","ensembl_id":"ENSG00000112640"}}},"hgnc_date_symbol_changed":"1996-05-08"},"entity_type":"gene","entity_name":"PPP2R5D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 26168268, 25972378, 25533962","34448180"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Houge-Janssens syndrome 1, MIM#616355"],"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":["MGC22014","hCG_40738"],"biotype":"protein_coding","hgnc_id":"HGNC:28313","gene_name":"tet methylcytosine dioxygenase 3","omim_gene":["613555"],"alias_name":null,"gene_symbol":"TET3","hgnc_symbol":"TET3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74229840-74335303","ensembl_id":"ENSG00000187605"}},"GRch38":{"90":{"location":"2:73986404-74108176","ensembl_id":"ENSG00000187605"}}},"hgnc_date_symbol_changed":"2008-03-12"},"entity_type":"gene","entity_name":"TET3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31928709"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Beck-Fahrner syndrome\tMIM#618798"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["KIAA0993","ALFY","ZFYVE25"],"biotype":"protein_coding","hgnc_id":"HGNC:20751","gene_name":"WD repeat and FYVE domain containing 3","omim_gene":["617485"],"alias_name":null,"gene_symbol":"WDFY3","hgnc_symbol":"WDFY3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:85590704-85887544","ensembl_id":"ENSG00000163625"}},"GRch38":{"90":{"location":"4:84669610-84966391","ensembl_id":"ENSG00000163625"}}},"hgnc_date_symbol_changed":"2003-03-28"},"entity_type":"gene","entity_name":"WDFY3","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31327001"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with macrocephaly"],"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":["FLJ38568","MRX93"],"biotype":"protein_coding","hgnc_id":"HGNC:17342","gene_name":"bromodomain and WD repeat domain containing 3","omim_gene":["300553"],"alias_name":null,"gene_symbol":"BRWD3","hgnc_symbol":"BRWD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:79926353-80065187","ensembl_id":"ENSG00000165288"}},"GRch38":{"90":{"location":"X:80670854-80809688","ensembl_id":"ENSG00000165288"}}},"hgnc_date_symbol_changed":"2005-01-07"},"entity_type":"gene","entity_name":"BRWD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30628072, 24462886"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, X-linked 93","OMIM # 300659"],"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":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":["TMC","MGC9042","STT3-A"],"biotype":"protein_coding","hgnc_id":"HGNC:6172","gene_name":"STT3A, catalytic subunit of the oligosaccharyltransferase complex","omim_gene":["601134"],"alias_name":["dolichyl-diphosphooligosaccharide protein glycotransferase"],"gene_symbol":"STT3A","hgnc_symbol":"STT3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:125461607-125495110","ensembl_id":"ENSG00000134910"}},"GRch38":{"90":{"location":"11:125591712-125625215","ensembl_id":"ENSG00000134910"}}},"hgnc_date_symbol_changed":"2006-02-07"},"entity_type":"gene","entity_name":"STT3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 34653363","23842455","30701557","28424003"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital disorder of glycosylation, type Iw, AR, OMIM #615596","Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714"],"mode_of_inheritance":"BOTH monoallelic and 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":["Dicer","KIAA0928","K12H4.8-LIKE","HERNA"],"biotype":"protein_coding","hgnc_id":"HGNC:17098","gene_name":"dicer 1, ribonuclease III","omim_gene":["606241"],"alias_name":["dicer 1, double-stranded RNA-specific endoribonuclease"],"gene_symbol":"DICER1","hgnc_symbol":"DICER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:95552565-95624347","ensembl_id":"ENSG00000100697"}},"GRch38":{"90":{"location":"14:95086228-95158010","ensembl_id":"ENSG00000100697"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"DICER1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27441995"],"evidence":["Expert Review Green","Literature"],"phenotypes":["DICER1 syndrome, MONDO:0017288"],"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":["FBI-1","LRF","DKFZp547O146","pokemon","ZNF857A"],"biotype":"protein_coding","hgnc_id":"HGNC:18078","gene_name":"zinc finger and BTB domain containing 7A","omim_gene":["605878"],"alias_name":["zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein","lymphoma related factor"],"gene_symbol":"ZBTB7A","hgnc_symbol":"ZBTB7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4044362-4066943","ensembl_id":"ENSG00000178951"}},"GRch38":{"90":{"location":"19:4044364-4066945","ensembl_id":"ENSG00000178951"}}},"hgnc_date_symbol_changed":"2005-04-07"},"entity_type":"gene","entity_name":"ZBTB7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34515416","31645653"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)"],"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":["p532","p619"],"biotype":"protein_coding","hgnc_id":"HGNC:4867","gene_name":"HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","omim_gene":["605109"],"alias_name":null,"gene_symbol":"HERC1","hgnc_symbol":"HERC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:63900817-64126141","ensembl_id":"ENSG00000103657"}},"GRch38":{"90":{"location":"15:63608618-63833942","ensembl_id":"ENSG00000103657"}}},"hgnc_date_symbol_changed":"1999-01-07"},"entity_type":"gene","entity_name":"HERC1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["27108999","26153217","26138117"],"evidence":["Expert Review Green","Literature"],"phenotypes":["MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION OMIM#617011"],"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":[]}]}