Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=42
{ "count": 35521, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=43", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=41", "results": [ { "gene_data": { "alias": [ "HADH1", "SCHAD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4799", "gene_name": "hydroxyacyl-CoA dehydrogenase", "omim_gene": [ "601609" ], "alias_name": null, "gene_symbol": "HADH", "hgnc_symbol": "HADH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:108910870-108956331", "ensembl_id": "ENSG00000138796" } }, "GRch38": { "90": { "location": "4:107989714-108035175", "ensembl_id": "ENSG00000138796" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HADH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530", "Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975", "SCHAD deficiency, MONDO:0009278" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GBP", "LCEH", "LCHAD", "MTPA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4801", "gene_name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha", "omim_gene": [ "600890" ], "alias_name": [ "gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit" ], "gene_symbol": "HADHA", "hgnc_symbol": "HADHA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:26413504-26467594", "ensembl_id": "ENSG00000084754" } }, "GRch38": { "90": { "location": "2:26190635-26244726", "ensembl_id": "ENSG00000084754" } } }, "hgnc_date_symbol_changed": "1994-12-16" }, "entity_type": "gene", "entity_name": "HADHA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "LCHAD deficiency, MIM# 609016" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MTPB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4803", "gene_name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta", "omim_gene": [ "143450" ], "alias_name": [ "mitochondrial trifunctional protein, beta subunit" ], "gene_symbol": "HADHB", "hgnc_symbol": "HADHB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:26466038-26513336", "ensembl_id": "ENSG00000138029" } }, "GRch38": { "90": { "location": "2:26243170-26290468", "ensembl_id": "ENSG00000138029" } } }, "hgnc_date_symbol_changed": "1994-12-16" }, "entity_type": "gene", "entity_name": "HADHB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30682426", "28515471" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Trifunctional protein deficiency, MIM# 609015" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5005", "gene_name": "3-hydroxymethyl-3-methylglutaryl-CoA lyase", "omim_gene": [ "613898" ], "alias_name": [ "hydroxymethylglutaricaciduria" ], "gene_symbol": "HMGCL", "hgnc_symbol": "HMGCL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24128375-24165110", "ensembl_id": "ENSG00000117305" } }, "GRch38": { "90": { "location": "1:23801885-23838620", "ensembl_id": "ENSG00000117305" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "HMGCL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8617516" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "HMG-CoA lyase deficiency, MIM# 246450" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV", "treatable" ], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5008", "gene_name": "3-hydroxy-3-methylglutaryl-CoA synthase 2", "omim_gene": [ "600234" ], "alias_name": null, "gene_symbol": "HMGCS2", "hgnc_symbol": "HMGCS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:120290619-120311528", "ensembl_id": "ENSG00000134240" } }, "GRch38": { "90": { "location": "1:119747996-119768905", "ensembl_id": "ENSG00000134240" } } }, "hgnc_date_symbol_changed": "1994-05-17" }, "entity_type": "gene", "entity_name": "HMGCS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33045405" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "HMG-CoA synthase-2 deficiency, MIM# 605911" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0188" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13345", "gene_name": "lipin 1", "omim_gene": [ "605518" ], "alias_name": null, "gene_symbol": "LPIN1", "hgnc_symbol": "LPIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:11817721-11967535", "ensembl_id": "ENSG00000134324" } }, "GRch38": { "90": { "location": "2:11677595-11827409", "ensembl_id": "ENSG00000134324" } } }, "hgnc_date_symbol_changed": "2001-01-24" }, "entity_type": "gene", "entity_name": "LPIN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18817903", "32549891", "32522502", "32410653" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCD", "hMCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7150", "gene_name": "malonyl-CoA decarboxylase", "omim_gene": [ "606761" ], "alias_name": null, "gene_symbol": "MLYCD", "hgnc_symbol": "MLYCD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:83932731-83949787", "ensembl_id": "ENSG00000103150" } }, "GRch38": { "90": { "location": "16:83899126-83927026", "ensembl_id": "ENSG00000103150" } } }, "hgnc_date_symbol_changed": "2000-02-11" }, "entity_type": "gene", "entity_name": "MLYCD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12955715" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Malonyl-CoA decarboxylase deficiency, MIM# 248360" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PPARG1", "PPARG2", "NR1C3", "PPARgamma" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9236", "gene_name": "peroxisome proliferator activated receptor gamma", "omim_gene": [ "601487" ], "alias_name": null, "gene_symbol": "PPARG", "hgnc_symbol": "PPARG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:12328867-12475855", "ensembl_id": "ENSG00000132170" } }, "GRch38": { "90": { "location": "3:12287368-12434356", "ensembl_id": "ENSG00000132170" } } }, "hgnc_date_symbol_changed": "1996-03-12" }, "entity_type": "gene", "entity_name": "PPARG", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. The clinical presentation of a FAOD depends on the specific disorder, but commonly includes cardiomyopathy in the newborn period, liver dysfunction and hypoketotic hypoglycaemia during infancy and childhood, and episodic rhabdomyolysis during or after adolescence.\r\n\r\nThis panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt incorporates assessments by the ClinGen Fatty Acid Oxidation Disorders Working Group, McGlaughon et al 2019, PMID: 31399326.", "status": "public", "version": "1.15", "version_created": "2025-11-20T16:48:15.748218+11:00", "relevant_disorders": [ "Abnormal circulating fatty acid concentration", "HP:0004359; Rhabdomyolysis", "HP:0003201; Hypoglycaemia", "HP:0001943" ], "stats": { "number_of_genes": 33, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OCTN2", "SCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10969", "gene_name": "solute carrier family 22 member 5", "omim_gene": [ "603377" ], "alias_name": null, "gene_symbol": "SLC22A5", "hgnc_symbol": "SLC22A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:131705444-131731306", "ensembl_id": "ENSG00000197375" } }, "GRch38": { "90": { "location": "5:132369752-132395614", "ensembl_id": "ENSG00000197375" } } }, "hgnc_date_symbol_changed": "1998-07-16" }, "entity_type": "gene", "entity_name": "SLC22A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Carnitine deficiency, systemic primary, MIM# 212140" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 103, "hash_id": null, "name": "Fatty Acid Oxidation Defects", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. 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GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9725", "gene_name": "glycogen phosphorylase L", "omim_gene": [ "613741" ], "alias_name": [ "Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form" ], "gene_symbol": "PYGL", "hgnc_symbol": "PYGL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:51324609-51411454", "ensembl_id": "ENSG00000100504" } }, "GRch38": { "90": { "location": "14:50857891-50944736", "ensembl_id": "ENSG00000100504" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PYGL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9529348", "9536091", "33505429", "32961316", "32892177" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease VI, MIM# 232700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9726", "gene_name": "glycogen phosphorylase, muscle associated", "omim_gene": [ "608455" ], "alias_name": [ "McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form", "myophosphorylase" ], "gene_symbol": "PYGM", "hgnc_symbol": "PYGM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64513861-64527769", "ensembl_id": "ENSG00000068976" } }, "GRch38": { "90": { "location": "11:64746389-64760297", "ensembl_id": "ENSG00000068976" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PYGM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32386344" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "McArdle disease, MIM# 232600", "Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11006", "gene_name": "solute carrier family 2 member 2", "omim_gene": [ "138160" ], "alias_name": null, "gene_symbol": "SLC2A2", "hgnc_symbol": "SLC2A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:170714137-170744539", "ensembl_id": "ENSG00000163581" } }, "GRch38": { "90": { "location": "3:170996348-171026750", "ensembl_id": "ENSG00000163581" } } }, "hgnc_date_symbol_changed": "1989-01-13" }, "entity_type": "gene", "entity_name": "SLC2A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30950137", "22145468" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fanconi-Bickel syndrome (MIM#227810)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GSD1b", "GSD1c", "GSD1d" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4061", "gene_name": "solute carrier family 37 member 4", "omim_gene": [ "602671" ], "alias_name": null, "gene_symbol": "SLC37A4", "hgnc_symbol": "SLC37A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:118894824-118901616", "ensembl_id": "ENSG00000137700" } }, "GRch38": { "90": { "location": "11:119024114-119030906", "ensembl_id": "ENSG00000137700" } } }, "hgnc_date_symbol_changed": "2003-09-10" }, "entity_type": "gene", "entity_name": "SLC37A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28224773", "31508908", "32005221" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease Ib (MIM#232220)", "Glycogen storage disease Ic (MIM#232240)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "bA204B7.2", "EPM2B", "malin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21576", "gene_name": "NHL repeat containing E3 ubiquitin protein ligase 1", "omim_gene": [ "608072" ], "alias_name": [ "epilepsy, progressive myoclonus type 2B" ], "gene_symbol": "NHLRC1", "hgnc_symbol": "NHLRC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:18120718-18122851", "ensembl_id": "ENSG00000187566" } }, "GRch38": { "90": { "location": "6:18120440-18122687", "ensembl_id": "ENSG00000187566" } } }, "hgnc_date_symbol_changed": "2003-10-06" }, "entity_type": "gene", "entity_name": "NHLRC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21505799", "12958597" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epilepsy, progressive myoclonic 2B (Lafora) 254780" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:321", "gene_name": "amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase", "omim_gene": [ "610860" ], "alias_name": [ "glycogen debranching enzyme", "glycogen storage disease type III" ], "gene_symbol": "AGL", "hgnc_symbol": "AGL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:100315640-100389579", "ensembl_id": "ENSG00000162688" } }, "GRch38": { "90": { "location": "1:99850084-99924023", "ensembl_id": "ENSG00000162688" } } }, "hgnc_date_symbol_changed": "1992-07-29" }, "entity_type": "gene", "entity_name": "AGL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease IIIa and IIIb, MIM# 232400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:414", "gene_name": "aldolase, fructose-bisphosphate A", "omim_gene": [ "103850" ], "alias_name": null, "gene_symbol": "ALDOA", "hgnc_symbol": "ALDOA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:30064411-30081778", "ensembl_id": "ENSG00000149925" } }, "GRch38": { "90": { "location": "16:30053090-30070457", "ensembl_id": "ENSG00000149925" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ALDOA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7331996", "8598869", "25392908" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease XII , MIM#611881" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:417", "gene_name": "aldolase, fructose-bisphosphate B", "omim_gene": [ "612724" ], "alias_name": null, "gene_symbol": "ALDOB", "hgnc_symbol": "ALDOB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:104182860-104198105", "ensembl_id": "ENSG00000136872" } }, "GRch38": { "90": { "location": "9:101420578-101435823", "ensembl_id": "ENSG00000136872" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ALDOB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fructose intolerance, hereditary, MIM# 229600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3354", "gene_name": "enolase 3", "omim_gene": [ "131370" ], "alias_name": [ "beta-enolase", "muscle enriched enolase" ], "gene_symbol": "ENO3", "hgnc_symbol": "ENO3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:4851387-4860426", "ensembl_id": "ENSG00000108515" } }, "GRch38": { "90": { "location": "17:4948092-4957131", "ensembl_id": "ENSG00000108515" } } }, "hgnc_date_symbol_changed": "1990-03-21" }, "entity_type": "gene", "entity_name": "ENO3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31741825", "11506403", "18070103", "25267339" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease XIII, MIM#612932" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LDE", "LD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3413", "gene_name": "EPM2A, laforin glucan phosphatase", "omim_gene": [ "607566" ], "alias_name": null, "gene_symbol": "EPM2A", "hgnc_symbol": "EPM2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:145822719-146057160", "ensembl_id": "ENSG00000112425" } }, "GRch38": { "90": { "location": "6:145382535-145736023", "ensembl_id": "ENSG00000112425" } } }, "hgnc_date_symbol_changed": "1998-10-01" }, "entity_type": "gene", "entity_name": "EPM2A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9771710" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3606", "gene_name": "fructose-bisphosphatase 1", "omim_gene": [ "611570" ], "alias_name": null, "gene_symbol": "FBP1", "hgnc_symbol": "FBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:97365415-97402531", "ensembl_id": "ENSG00000165140" } }, "GRch38": { "90": { "location": "9:94603133-94640249", "ensembl_id": "ENSG00000165140" } } }, "hgnc_date_symbol_changed": "1993-08-19" }, "entity_type": "gene", "entity_name": "FBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9382095" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Fructose-1,6-bisphosphatase deficiency, MIM# 229700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GSD1a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4056", "gene_name": "glucose-6-phosphatase catalytic subunit", "omim_gene": [ "613742" ], "alias_name": [ "glycogen storage disease type I, von Gierke disease" ], "gene_symbol": "G6PC", "hgnc_symbol": "G6PC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:41052814-41065386", "ensembl_id": "ENSG00000131482" } }, "GRch38": { "90": { "location": "17:42900797-42913369", "ensembl_id": "ENSG00000131482" } } }, "hgnc_date_symbol_changed": "1993-11-05" }, "entity_type": "gene", "entity_name": "G6PC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8733042" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease Ia, MIM# 232200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4065", "gene_name": "glucosidase alpha, acid", "omim_gene": [ "606800" ], "alias_name": [ "Pompe disease", "glycogen storage disease type II" ], "gene_symbol": "GAA", "hgnc_symbol": "GAA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:78075355-78093678", "ensembl_id": "ENSG00000171298" } }, "GRch38": { "90": { "location": "17:80101556-80119879", "ensembl_id": "ENSG00000171298" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GAA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25103075", "27365701" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease II (MIM#232300)", "MONDO:0009290" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4180", "gene_name": "1,4-alpha-glucan branching enzyme 1", "omim_gene": [ "607839" ], "alias_name": [ "glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV" ], "gene_symbol": "GBE1", "hgnc_symbol": "GBE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:81538850-81811312", "ensembl_id": "ENSG00000114480" } }, "GRch38": { "90": { "location": "3:81489699-81762161", "ensembl_id": "ENSG00000114480" } } }, "hgnc_date_symbol_changed": "1993-06-21" }, "entity_type": "gene", "entity_name": "GBE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8613547" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4699", "gene_name": "glycogenin 1", "omim_gene": [ "603942" ], "alias_name": [ "glycogenin glucosyltransferase" ], "gene_symbol": "GYG1", "hgnc_symbol": "GYG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:148709128-148745419", "ensembl_id": "ENSG00000163754" } }, "GRch38": { "90": { "location": "3:148991341-149027668", "ensembl_id": "ENSG00000163754" } } }, "hgnc_date_symbol_changed": "2005-11-04" }, "entity_type": "gene", "entity_name": "GYG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31791869", "20357282", "27718144" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease XV, MIM# 613507", "Polyglucosan body myopathy 2, MIM# 616199" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GSY" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4706", "gene_name": "glycogen synthase 1", "omim_gene": [ "138570" ], "alias_name": null, "gene_symbol": "GYS1", "hgnc_symbol": "GYS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:49471382-49496567", "ensembl_id": "ENSG00000104812" } }, "GRch38": { "90": { "location": "19:48968125-48993310", "ensembl_id": "ENSG00000104812" } } }, "hgnc_date_symbol_changed": "1992-08-25" }, "entity_type": "gene", "entity_name": "GYS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17928598", "19699667", "21958591" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease 0, muscle, MIM#\t611556" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4707", "gene_name": "glycogen synthase 2", "omim_gene": [ "138571" ], "alias_name": null, "gene_symbol": "GYS2", "hgnc_symbol": "GYS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:21689123-21757781", "ensembl_id": "ENSG00000111713" } }, "GRch38": { "90": { "location": "12:21536189-21604847", "ensembl_id": "ENSG00000111713" } } }, "hgnc_date_symbol_changed": "1993-09-24" }, "entity_type": "gene", "entity_name": "GYS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32395408", "28245189" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease 0, liver (MIM#240600)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD107b" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6501", "gene_name": "lysosomal associated membrane protein 2", "omim_gene": [ "309060" ], "alias_name": null, "gene_symbol": "LAMP2", "hgnc_symbol": "LAMP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:119561682-119603220", "ensembl_id": "ENSG00000005893" } }, "GRch38": { "90": { "location": "X:120427827-120469365", "ensembl_id": "ENSG00000005893" } } }, "hgnc_date_symbol_changed": "1990-08-03" }, "entity_type": "gene", "entity_name": "LAMP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Danon disease, MIM# 300257" ], "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": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6535", "gene_name": "lactate dehydrogenase A", "omim_gene": [ "150000" ], "alias_name": null, "gene_symbol": "LDHA", "hgnc_symbol": "LDHA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:18415935-18429972", "ensembl_id": "ENSG00000134333" } }, "GRch38": { "90": { "location": "11:18394388-18408425", "ensembl_id": "ENSG00000134333" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LDHA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "2334430", "1959923", "8327147" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease XI, MIM# 612933" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "SV/CNV" ], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PFK-1", "PPP1R122" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8877", "gene_name": "phosphofructokinase, muscle", "omim_gene": [ "610681" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 122" ], "gene_symbol": "PFKM", "hgnc_symbol": "PFKM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:48498922-48540187", "ensembl_id": "ENSG00000152556" } }, "GRch38": { "90": { "location": "12:48105139-48146404", "ensembl_id": "ENSG00000152556" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PFKM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24427140", "27066546", "30792690" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease VII (MIM#232800)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PGAM-M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8889", "gene_name": "phosphoglycerate mutase 2", "omim_gene": [ "612931" ], "alias_name": null, "gene_symbol": "PGAM2", "hgnc_symbol": "PGAM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:44102326-44105186", "ensembl_id": "ENSG00000164708" } }, "GRch38": { "90": { "location": "7:44062727-44065587", "ensembl_id": "ENSG00000164708" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "PGAM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8447317" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Glycogen storage disease X, MIM# 261670" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8896", "gene_name": "phosphoglycerate kinase 1", "omim_gene": [ "311800" ], "alias_name": null, "gene_symbol": "PGK1", "hgnc_symbol": "PGK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:77320685-77384793", "ensembl_id": "ENSG00000102144" } }, "GRch38": { "90": { "location": "X:78065188-78129296", "ensembl_id": "ENSG00000102144" } } }, "hgnc_date_symbol_changed": "1989-04-24" }, "entity_type": "gene", "entity_name": "PGK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "6933565", "1547346", "7577653", "9512313" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Phosphoglycerate kinase 1 deficiency, MIM# 300653", "MONDO:0010392" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8905", "gene_name": "phosphoglucomutase 1", "omim_gene": [ "171900" ], "alias_name": null, "gene_symbol": "PGM1", "hgnc_symbol": "PGM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:64058947-64125916", "ensembl_id": "ENSG00000079739" } }, "GRch38": { "90": { "location": "1:63593276-63660245", "ensembl_id": "ENSG00000079739" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PGM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19625727", "24499211" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Congenital disorder of glycosylation, type It 614921", "Glycogen storage disorder XIV" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).", "status": "public", "version": "1.4", "version_created": "2025-11-21T17:00:56.134684+11:00", "relevant_disorders": [ "Abnormal hepatic glycogen storage", "HP:0500030; Abnormal muscle glycogen content", "HP:0012269; Visceromegaly", "HP:0003271;Hypoglycemia", "HP:0001943" ], "stats": { "number_of_genes": 29, "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": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8925", "gene_name": "phosphorylase kinase regulatory subunit alpha 1", "omim_gene": [ "311870" ], "alias_name": null, "gene_symbol": "PHKA1", "hgnc_symbol": "PHKA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:71798664-71934167", "ensembl_id": "ENSG00000067177" } }, "GRch38": { "90": { "location": "X:72578814-72714319", "ensembl_id": "ENSG00000067177" } } }, "hgnc_date_symbol_changed": "1989-02-23" }, "entity_type": "gene", "entity_name": "PHKA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7874115", "12825073", "9731190" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscle glycogenosis, MIM# 300559" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 106, "hash_id": null, "name": "Glycogen Storage Diseases", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). 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