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Please note MBS funding for familial hypercholestrolaemia covers:\r\nCharacterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:\r\n(a) for whom no familial mutation has been identified; and\r\n(b) who has any of the following:\r\n·         (i) a Dutch Lipid Clinic Network score of at least 6;\r\n·         (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;\r\n·         (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis\r\n\r\nPlease also refer to the Dyslipidaemia panel.","status":"public","version":"1.0","version_created":"2024-12-04T13:37:18.095728+11:00","relevant_disorders":["Abnormal circulating cholesterol concentration","HP:0003107"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CITRIN","ARALAR2"],"biotype":"protein_coding","hgnc_id":"HGNC:10983","gene_name":"solute carrier family 25 member 13","omim_gene":["603859"],"alias_name":["mitochondrial aspartate glutamate carrier 2"],"gene_symbol":"SLC25A13","hgnc_symbol":"SLC25A13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:95749532-95951459","ensembl_id":"ENSG00000004864"}},"GRch38":{"90":{"location":"7:96120220-96322147","ensembl_id":"ENSG00000004864"}}},"hgnc_date_symbol_changed":"1999-07-13"},"entity_type":"gene","entity_name":"SLC25A13","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Citrullinemia, adult-onset type II, MIM#603471","Citrullinemia, type II, neonatal-onset, MIM#605814"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":333,"hash_id":null,"name":"Familial hypercholesterolaemia","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with familial hypercholestrolaemia. Please note MBS funding for familial hypercholestrolaemia covers:\r\nCharacterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:\r\n(a) for whom no familial mutation has been identified; and\r\n(b) who has any of the following:\r\n·         (i) a Dutch Lipid Clinic Network score of at least 6;\r\n·         (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;\r\n·         (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis\r\n\r\nPlease also refer to the Dyslipidaemia panel.","status":"public","version":"1.0","version_created":"2024-12-04T13:37:18.095728+11:00","relevant_disorders":["Abnormal circulating cholesterol concentration","HP:0003107"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LAL","CESD"],"biotype":"protein_coding","hgnc_id":"HGNC:6617","gene_name":"lipase A, lysosomal acid type","omim_gene":["613497"],"alias_name":["Wolman disease","lysosomal acid lipase","sterol esterase"],"gene_symbol":"LIPA","hgnc_symbol":"LIPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:90973326-91174314","ensembl_id":"ENSG00000107798"}},"GRch38":{"90":{"location":"10:89213569-89414557","ensembl_id":"ENSG00000107798"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LIPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11487567"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Cholesteryl ester storage disease, MIM# 278000","Wolman disease, MIM# 278000","Lysosomal acid lipase deficiency, MONDO:0010204"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":333,"hash_id":null,"name":"Familial hypercholesterolaemia","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with familial hypercholestrolaemia. Please note MBS funding for familial hypercholestrolaemia covers:\r\nCharacterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:\r\n(a) for whom no familial mutation has been identified; and\r\n(b) who has any of the following:\r\n·         (i) a Dutch Lipid Clinic Network score of at least 6;\r\n·         (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;\r\n·         (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis\r\n\r\nPlease also refer to the Dyslipidaemia panel.","status":"public","version":"1.0","version_created":"2024-12-04T13:37:18.095728+11:00","relevant_disorders":["Abnormal circulating cholesterol concentration","HP:0003107"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical 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