Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=4
{ "count": 35510, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=5", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=3", "results": [ { "gene_data": { "alias": [ "ALS19", "HER4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3432", "gene_name": "erb-b2 receptor tyrosine kinase 4", "omim_gene": [ "600543" ], "alias_name": [ "human epidermal growth factor receptor 4" ], "gene_symbol": "ERBB4", "hgnc_symbol": "ERBB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:212240446-213403565", "ensembl_id": "ENSG00000178568" } }, "GRch38": { "90": { "location": "2:211375717-212538841", "ensembl_id": "ENSG00000178568" } } }, "hgnc_date_symbol_changed": "1995-09-07" }, "entity_type": "gene", "entity_name": "ERBB4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24119685", "28889094" ], "evidence": [ "Expert Review Amber", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 19 MIM#615515" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "bA371L19.1", "hRFT2", "RFVT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16187", "gene_name": "solute carrier family 52 member 3", "omim_gene": [ "613350" ], "alias_name": [ "hypothetical protein LOC113278" ], "gene_symbol": "SLC52A3", "hgnc_symbol": "SLC52A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:740724-749131", "ensembl_id": "ENSG00000101276" } }, "GRch38": { "90": { "location": "20:760080-776015", "ensembl_id": "ENSG00000101276" } } }, "hgnc_date_symbol_changed": "2012-02-29" }, "entity_type": "gene", "entity_name": "SLC52A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26072523" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amytrophic Lateral Sclerosis (ALS)", "Brown-Vialetto-van Laere syndrome 1 (MIM# 211530)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "FLJ11856", "PAR1", "GPCR41", "D15Ertd747e", "RFVT2", "hRFT3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30224", "gene_name": "solute carrier family 52 member 2", "omim_gene": [ "607882" ], "alias_name": null, "gene_symbol": "SLC52A2", "hgnc_symbol": "SLC52A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145577795-145584932", "ensembl_id": "ENSG00000185803" } }, "GRch38": { "90": { "location": "8:144354135-144361272", "ensembl_id": "ENSG00000185803" } } }, "hgnc_date_symbol_changed": "2012-02-29" }, "entity_type": "gene", "entity_name": "SLC52A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "PEP-19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8742", "gene_name": "Purkinje cell protein 4", "omim_gene": [ "601629" ], "alias_name": null, "gene_symbol": "PCP4", "hgnc_symbol": "PCP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:41239243-41301322", "ensembl_id": "ENSG00000183036" } }, "GRch38": { "90": { "location": "21:39867317-39929397", "ensembl_id": "ENSG00000183036" } } }, "hgnc_date_symbol_changed": "1997-06-09" }, "entity_type": "gene", "entity_name": "PCP4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39852553" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "FBX1", "FBXO1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1591", "gene_name": "cyclin F", "omim_gene": [ "600227" ], "alias_name": null, "gene_symbol": "CCNF", "hgnc_symbol": "CCNF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2479395-2508855", "ensembl_id": "ENSG00000162063" } }, "GRch38": { "90": { "location": "16:2429394-2458854", "ensembl_id": "ENSG00000162063" } } }, "hgnc_date_symbol_changed": "1994-05-18" }, "entity_type": "gene", "entity_name": "CCNF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29102476", "31577344", "27080313", "28105640", "31445393", "28852778" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "FLJ10060", "GPCR42", "PAR2", "hRFT1", "RFVT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30225", "gene_name": "solute carrier family 52 member 1", "omim_gene": [ "607883" ], "alias_name": [ "riboflavin transporter 1" ], "gene_symbol": "SLC52A1", "hgnc_symbol": "SLC52A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:4935895-4955304", "ensembl_id": "ENSG00000132517" } }, "GRch38": { "90": { "location": "17:5032600-5052009", "ensembl_id": "ENSG00000132517" } } }, "hgnc_date_symbol_changed": "2012-02-29" }, "entity_type": "gene", "entity_name": "SLC52A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29122468", "17689999" ], "evidence": [ "Expert Review Red", "Expert Review Red", "Expert list", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Riboflavin deficiency, MIM#615026" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "SR-BP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8157", "gene_name": "sigma non-opioid intracellular receptor 1", "omim_gene": [ "601978" ], "alias_name": null, "gene_symbol": "SIGMAR1", "hgnc_symbol": "SIGMAR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:34634719-34637806", "ensembl_id": "ENSG00000147955" } }, "GRch38": { "90": { "location": "9:34634722-34637809", "ensembl_id": "ENSG00000147955" } } }, "hgnc_date_symbol_changed": "2008-12-18" }, "entity_type": "gene", "entity_name": "SIGMAR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "RNMX", "hnRNP-G", "HNRNPG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9910", "gene_name": "RNA binding motif protein, X-linked", "omim_gene": [ "300199" ], "alias_name": [ "heterogeneous nuclear ribonucleoprotein G" ], "gene_symbol": "RBMX", "hgnc_symbol": "RBMX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:135930163-135962923", "ensembl_id": "ENSG00000147274" } }, "GRch38": { "90": { "location": "X:136848004-136880764", "ensembl_id": "ENSG00000147274" } } }, "hgnc_date_symbol_changed": "2000-01-31" }, "entity_type": "gene", "entity_name": "RBMX", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39263607" ], "evidence": [ "Expert Review", "Expert Review Amber" ], "phenotypes": [ "Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "KIAA0720", "Syx", "GEF720", "Tech" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29105", "gene_name": "pleckstrin homology and RhoGEF domain containing G5", "omim_gene": [ "611101" ], "alias_name": [ "synectin-binding guanine exchange factor" ], "gene_symbol": "PLEKHG5", "hgnc_symbol": "PLEKHG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:6526152-6580121", "ensembl_id": "ENSG00000171680" } }, "GRch38": { "90": { "location": "1:6466092-6520061", "ensembl_id": "ENSG00000171680" } } }, "hgnc_date_symbol_changed": "2005-08-09" }, "entity_type": "gene", "entity_name": "PLEKHG5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17564964" ], "evidence": [ "Expert Review Red", "Royal Melbourne Hospital", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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:8881", "gene_name": "profilin 1", "omim_gene": [ "176610" ], "alias_name": null, "gene_symbol": "PFN1", "hgnc_symbol": "PFN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:4848947-4852356", "ensembl_id": "ENSG00000108518" } }, "GRch38": { "90": { "location": "17:4945652-4949061", "ensembl_id": "ENSG00000108518" } } }, "hgnc_date_symbol_changed": "1988-08-15" }, "entity_type": "gene", "entity_name": "PFN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "A1U", "UBIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1237", "gene_name": "ubiquilin 4", "omim_gene": [ "605440" ], "alias_name": [ "ataxin-1 ubiquitin-like interacting protein" ], "gene_symbol": "UBQLN4", "hgnc_symbol": "UBQLN4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:156005092-156023585", "ensembl_id": "ENSG00000160803" } }, "GRch38": { "90": { "location": "1:156035301-156053794", "ensembl_id": "ENSG00000160803" } } }, "hgnc_date_symbol_changed": "2004-11-06" }, "entity_type": "gene", "entity_name": "UBQLN4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28463112", "30804504" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Amyotrophic lateral sclerosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. 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It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "Uae1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23657", "gene_name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase", "omim_gene": [ "603824" ], "alias_name": [ "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase" ], "gene_symbol": "GNE", "hgnc_symbol": "GNE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:36214438-36277053", "ensembl_id": "ENSG00000159921" } }, "GRch38": { "90": { "location": "9:36214441-36277056", "ensembl_id": "ENSG00000159921" } } }, "hgnc_date_symbol_changed": "2003-11-28" }, "entity_type": "gene", "entity_name": "GNE", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29086072" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "hTAFII68", "RBP56", "Npl3" ], "biotype": null, "hgnc_id": "HGNC:11547", "gene_name": "TATA-box binding protein associated factor 15", "omim_gene": [ "601574" ], "alias_name": null, "gene_symbol": "TAF15", "hgnc_symbol": "TAF15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:34136459-34191619", "ensembl_id": "ENSG00000172660" } }, "GRch38": { "90": { "location": "17:35713791-35864615", "ensembl_id": "ENSG00000270647" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "TAF15", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21438137", "22065782", "27810362", "28889094" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Amyotrophic lateral sclerosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. 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It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "hnRNPA1", "hnRNP-A1", "ALS20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5031", "gene_name": "heterogeneous nuclear ribonucleoprotein A1", "omim_gene": [ "164017" ], "alias_name": null, "gene_symbol": "HNRNPA1", "hgnc_symbol": "HNRNPA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:54673977-54680872", "ensembl_id": "ENSG00000135486" } }, "GRch38": { "90": { "location": "12:54280193-54287088", "ensembl_id": "ENSG00000135486" } } }, "hgnc_date_symbol_changed": "2007-08-16" }, "entity_type": "gene", "entity_name": "HNRNPA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23455423", "34291734" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis 20 MIM#615426" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. 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It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "KE04", "Erlin-1", "SPG62" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16947", "gene_name": "ER lipid raft associated 1", "omim_gene": [ "611604" ], "alias_name": [ "Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9" ], "gene_symbol": "ERLIN1", "hgnc_symbol": "ERLIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:101909851-101948091", "ensembl_id": "ENSG00000107566" } }, "GRch38": { "90": { "location": "10:100150094-100188334", "ensembl_id": "ENSG00000107566" } } }, "hgnc_date_symbol_changed": "2007-01-26" }, "entity_type": "gene", "entity_name": "ERLIN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29453415" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Amyotrophic lateral sclerosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "OIP2", "RRP43", "bA421P11.3", "Rrp43p", "EAP2", "p9", "CIP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17035", "gene_name": "exosome component 8", "omim_gene": [ "606019" ], "alias_name": [ "CBP-interacting protein 3", "Opa interacting protein 2" ], "gene_symbol": "EXOSC8", "hgnc_symbol": "EXOSC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:37572953-37583750", "ensembl_id": "ENSG00000120699" } }, "GRch38": { "90": { "location": "13:36998816-37009613", "ensembl_id": "ENSG00000120699" } } }, "hgnc_date_symbol_changed": "2004-03-26" }, "entity_type": "gene", "entity_name": "EXOSC8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24989451" ], "evidence": [ "Expert Review Red", "Expert list", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 1C, MIM# 616081" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "DAMOX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2671", "gene_name": "D-amino acid oxidase", "omim_gene": [ "124050" ], "alias_name": null, "gene_symbol": "DAO", "hgnc_symbol": "DAO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:109252708-109294819", "ensembl_id": "ENSG00000110887" } }, "GRch38": { "90": { "location": "12:108858932-108901043", "ensembl_id": "ENSG00000110887" } } }, "hgnc_date_symbol_changed": "1992-11-25" }, "entity_type": "gene", "entity_name": "DAO", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29274788", "29895397", "20368421", "29194436" ], "evidence": [ "Expert Review Red", "Expert list" ], "phenotypes": [ "Amyotrophic Lateral Sclerosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "refuted" ], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "Dnchc1", "HL-3", "p22", "DHC1", "CMT2O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2961", "gene_name": "dynein cytoplasmic 1 heavy chain 1", "omim_gene": [ "600112" ], "alias_name": null, "gene_symbol": "DYNC1H1", "hgnc_symbol": "DYNC1H1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:102430865-102517129", "ensembl_id": "ENSG00000197102" } }, "GRch38": { "90": { "location": "14:101964528-102050792", "ensembl_id": "ENSG00000197102" } } }, "hgnc_date_symbol_changed": "2005-11-24" }, "entity_type": "gene", "entity_name": "DYNC1H1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Royal Melbourne Hospital", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "HSPF3", "CMT2T" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5228", "gene_name": "DnaJ heat shock protein family (Hsp40) member B2", "omim_gene": [ "604139" ], "alias_name": null, "gene_symbol": "DNAJB2", "hgnc_symbol": "DNAJB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220143989-220151622", "ensembl_id": "ENSG00000135924" } }, "GRch38": { "90": { "location": "2:219279267-219286900", "ensembl_id": "ENSG00000135924" } } }, "hgnc_date_symbol_changed": "1997-08-15" }, "entity_type": "gene", "entity_name": "DNAJB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert list", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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:2711", "gene_name": "dynactin subunit 1", "omim_gene": [ "601143" ], "alias_name": [ "p150 glued homolog (Drosophila)" ], "gene_symbol": "DCTN1", "hgnc_symbol": "DCTN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74588281-74619214", "ensembl_id": "ENSG00000204843" } }, "GRch38": { "90": { "location": "2:74361154-74392087", "ensembl_id": "ENSG00000204843" } } }, "hgnc_date_symbol_changed": "1995-10-03" }, "entity_type": "gene", "entity_name": "DCTN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20945553, 19136952, 24343258" ], "evidence": [ "Literature", "Expert Review Green", "Expert Review Amber", "Expert Review Green" ], "phenotypes": [ "Perry syndrome, MONDO:0008201" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "N27C7-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15559", "gene_name": "coiled-coil-helix-coiled-coil-helix domain containing 10", "omim_gene": [ "615903" ], "alias_name": null, "gene_symbol": "CHCHD10", "hgnc_symbol": "CHCHD10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:24108021-24110630", "ensembl_id": "ENSG00000250479" } }, "GRch38": { "90": { "location": "22:23765834-23768443", "ensembl_id": "ENSG00000250479" } } }, "hgnc_date_symbol_changed": "2008-06-13" }, "entity_type": "gene", "entity_name": "CHCHD10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "KIAA0699" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17208", "gene_name": "BICD cargo adaptor 2", "omim_gene": [ "609797" ], "alias_name": null, "gene_symbol": "BICD2", "hgnc_symbol": "BICD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:95473645-95527094", "ensembl_id": "ENSG00000185963" } }, "GRch38": { "90": { "location": "9:92711363-92764812", "ensembl_id": "ENSG00000185963" } } }, "hgnc_date_symbol_changed": "2003-11-14" }, "entity_type": "gene", "entity_name": "BICD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert list", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290", "Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "DKFZP564O123", "CHMP2.5", "VPS2B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24537", "gene_name": "charged multivesicular body protein 2B", "omim_gene": [ "609512" ], "alias_name": [ "VPS2 homolog B (S. cerevisiae)" ], "gene_symbol": "CHMP2B", "hgnc_symbol": "CHMP2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:87276421-87304698", "ensembl_id": "ENSG00000083937" } }, "GRch38": { "90": { "location": "3:87227271-87255548", "ensembl_id": "ENSG00000083937" } } }, "hgnc_date_symbol_changed": "2005-04-04" }, "entity_type": "gene", "entity_name": "CHMP2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", "publications": [ "20301378", "16041373" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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:869", "gene_name": "ATPase copper transporting alpha", "omim_gene": [ "300011" ], "alias_name": [ "copper pump 1", "copper-transporting ATPase 1" ], "gene_symbol": "ATP7A", "hgnc_symbol": "ATP7A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:77166194-77305892", "ensembl_id": "ENSG00000165240" } }, "GRch38": { "90": { "location": "X:77910656-78050395", "ensembl_id": "ENSG00000165240" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ATP7A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Expert list", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinal muscular atrophy, distal, X-linked 3, 300489" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "CGI-18", "ASC1p50", "Em:AC022392.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24268", "gene_name": "activating signal cointegrator 1 complex subunit 1", "omim_gene": [ "614215" ], "alias_name": null, "gene_symbol": "ASCC1", "hgnc_symbol": "ASCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:73856278-73976892", "ensembl_id": "ENSG00000138303" } }, "GRch38": { "90": { "location": "10:72096032-72217134", "ensembl_id": "ENSG00000138303" } } }, "hgnc_date_symbol_changed": "2004-03-17" }, "entity_type": "gene", "entity_name": "ASCC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26924529", "28218388" ], "evidence": [ "Expert Review Green", "Expert list", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807", "MIM#616867)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "KIAA0849", "USPL2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2584", "gene_name": "CYLD lysine 63 deubiquitinase", "omim_gene": [ "605018" ], "alias_name": [ "ubiquitin specific peptidase like 2" ], "gene_symbol": "CYLD", "hgnc_symbol": "CYLD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:50775961-50835846", "ensembl_id": "ENSG00000083799" } }, "GRch38": { "90": { "location": "16:50742050-50801935", "ensembl_id": "ENSG00000083799" } } }, "hgnc_date_symbol_changed": "1996-12-17" }, "entity_type": "gene", "entity_name": "CYLD", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "32666117", "32666099", "32185393" ], "evidence": [ "Expert Review Amber", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "FSP1", "AD-FSP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11231", "gene_name": "atlastin GTPase 1", "omim_gene": [ "606439" ], "alias_name": [ "atlastin" ], "gene_symbol": "ATL1", "hgnc_symbol": "ATL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:50999227-51099786", "ensembl_id": "ENSG00000198513" } }, "GRch38": { "90": { "location": "14:50532509-50633068", "ensembl_id": "ENSG00000198513" } } }, "hgnc_date_symbol_changed": "2008-09-17" }, "entity_type": "gene", "entity_name": "ATL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16765570" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 3A, autosomal dominant MIM#182600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. 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It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "RNASE5", "RAA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:483", "gene_name": "angiogenin", "omim_gene": [ "105850" ], "alias_name": [ "ribonuclease A family member 5" ], "gene_symbol": "ANG", "hgnc_symbol": "ANG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:21152336-21167130", "ensembl_id": "ENSG00000214274" } }, "GRch38": { "90": { "location": "14:20684177-20698971", "ensembl_id": "ENSG00000214274" } } }, "hgnc_date_symbol_changed": "1989-05-23" }, "entity_type": "gene", "entity_name": "ANG", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17886298", "16501576", "18087731", "20301623" ], "evidence": [ "Expert Review Amber", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753", "MIM#611895)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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:7737", "gene_name": "neurofilament heavy", "omim_gene": [ "162230" ], "alias_name": null, "gene_symbol": "NEFH", "hgnc_symbol": "NEFH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29876219-29887379", "ensembl_id": "ENSG00000100285" } }, "GRch38": { "90": { "location": "22:29480230-29491390", "ensembl_id": "ENSG00000100285" } } }, "hgnc_date_symbol_changed": "1988-08-31" }, "entity_type": "gene", "entity_name": "NEFH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "amyotrophic lateral sclerosis MONDO:0004976" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "NY-REN-55", "KIAA1901" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7744", "gene_name": "NIMA related kinase 1", "omim_gene": [ "604588" ], "alias_name": null, "gene_symbol": "NEK1", "hgnc_symbol": "NEK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:170314426-170533780", "ensembl_id": "ENSG00000137601" } }, "GRch38": { "90": { "location": "4:169392857-169612629", "ensembl_id": "ENSG00000137601" } } }, "hgnc_date_symbol_changed": "1998-08-26" }, "entity_type": "gene", "entity_name": "NEK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31768050", "26945885", "27455347", "29929116" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "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": null, "publications": [ "31995250", "31076878" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "TPR2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12392", "gene_name": "DnaJ heat shock protein family (Hsp40) member C7", "omim_gene": [ "601964" ], "alias_name": null, "gene_symbol": "DNAJC7", "hgnc_symbol": "DNAJC7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40128451-40173394", "ensembl_id": "ENSG00000168259" } }, "GRch38": { "90": { "location": "17:41976433-42021376", "ensembl_id": "ENSG00000168259" } } }, "hgnc_date_symbol_changed": "1997-12-12" }, "entity_type": "gene", "entity_name": "DNAJC7", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31768050", "40802071", "35039179", "34233860", "32897108", "37870677", "35456894" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "amyotrophic lateral sclerosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "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": null, "publications": [ "31995250", "24263030" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Sandhoff disease, infantile, juvenile, and adult forms MIM#268800" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "HSPC159", "GRP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25012", "gene_name": "galectin like", "omim_gene": null, "alias_name": [ "galectin-related protein" ], "gene_symbol": "LGALSL", "hgnc_symbol": "LGALSL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:64681103-64688515", "ensembl_id": "ENSG00000119862" } }, "GRch38": { "90": { "location": "2:64453969-64461381", "ensembl_id": "ENSG00000119862" } } }, "hgnc_date_symbol_changed": "2011-08-15" }, "entity_type": "gene", "entity_name": "LGALSL", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30940688" ], "evidence": [ "Expert Review Amber", "ClinGen" ], "phenotypes": [ "amyotrophic lateral sclerosis MONDO:0004976" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "CAR", "SPG5C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11237", "gene_name": "SPG7, paraplegin matrix AAA peptidase subunit", "omim_gene": [ "602783" ], "alias_name": [ "paraplegin" ], "gene_symbol": "SPG7", "hgnc_symbol": "SPG7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:89557325-89624176", "ensembl_id": "ENSG00000197912" } }, "GRch38": { "90": { "location": "16:89490917-89557768", "ensembl_id": "ENSG00000197912" } } }, "hgnc_date_symbol_changed": "1998-06-25" }, "entity_type": "gene", "entity_name": "SPG7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16765570", "19364936" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 7, autosomal recessive MIM#607259" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. 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It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "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": null, "publications": [ "20301758", "26194201" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Polyglucosan body disease, adult form\tMIM#263570" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "FLJ13110", "SPG31", "Yip2a" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25786", "gene_name": "receptor accessory protein 1", "omim_gene": [ "609139" ], "alias_name": [ "receptor expression enhancing protein 1" ], "gene_symbol": "REEP1", "hgnc_symbol": "REEP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:86441116-86565206", "ensembl_id": "ENSG00000068615" } }, "GRch38": { "90": { "location": "2:86213993-86338083", "ensembl_id": "ENSG00000068615" } } }, "hgnc_date_symbol_changed": "2006-02-07" }, "entity_type": "gene", "entity_name": "REEP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23108492", "22703882" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spastic paraplegia 31, autosomal dominant MIM#610250" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "PCDGF", "PGRN", "CLN11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4601", "gene_name": "granulin precursor", "omim_gene": [ "138945" ], "alias_name": [ "progranulin" ], "gene_symbol": "GRN", "hgnc_symbol": "GRN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42422614-42430470", "ensembl_id": "ENSG00000030582" } }, "GRch38": { "90": { "location": "17:44345086-44353102", "ensembl_id": "ENSG00000030582" } } }, "hgnc_date_symbol_changed": "1992-11-30" }, "entity_type": "gene", "entity_name": "GRN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18184915", "23596077" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "BCD541", "SMNT", "SMA1", "SMA2", "SMA3", "GEMIN1", "TDRD16A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11117", "gene_name": "survival of motor neuron 1, telomeric", "omim_gene": [ "600354" ], "alias_name": [ "gemin-1", "tudor domain containing 16A" ], "gene_symbol": "SMN1", "hgnc_symbol": "SMN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:70220768-70249769", "ensembl_id": "ENSG00000172062" } }, "GRch38": { "90": { "location": "5:70925030-70953942", "ensembl_id": "ENSG00000172062" } } }, "hgnc_date_symbol_changed": "1996-12-12" }, "entity_type": "gene", "entity_name": "SMN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301623" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Spinal muscular atrophy-1, MIM# 253300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "RZF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10057", "gene_name": "ring finger protein 13", "omim_gene": [ "609247" ], "alias_name": null, "gene_symbol": "RNF13", "hgnc_symbol": "RNF13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:149530495-149679926", "ensembl_id": "ENSG00000082996" } }, "GRch38": { "90": { "location": "3:149812708-149962139", "ensembl_id": "ENSG00000082996" } } }, "hgnc_date_symbol_changed": "1999-10-19" }, "entity_type": "gene", "entity_name": "RNF13", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35879052" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "Amyotrophic lateral sclerosis" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [ "LCB1", "SPTI", "HSAN1", "hLCB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11277", "gene_name": "serine palmitoyltransferase long chain base subunit 1", "omim_gene": [ "605712" ], "alias_name": null, "gene_symbol": "SPTLC1", "hgnc_symbol": "SPTLC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:94794281-94877666", "ensembl_id": "ENSG00000090054" } }, "GRch38": { "90": { "location": "9:92031999-92115384", "ensembl_id": "ENSG00000090054" } } }, "hgnc_date_symbol_changed": "2000-07-31" }, "entity_type": "gene", "entity_name": "SPTLC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "34059824", "35900868", "34459874" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "juvenile amyotrophic lateral sclerosis MONDO:0017593" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15832", "gene_name": "BSCL2, seipin lipid droplet biogenesis associated", "omim_gene": [ "606158" ], "alias_name": null, "gene_symbol": "BSCL2", "hgnc_symbol": "BSCL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:62457747-62477317", "ensembl_id": "ENSG00000168000" } }, "GRch38": { "90": { "location": "11:62690275-62709845", "ensembl_id": "ENSG00000168000" } } }, "hgnc_date_symbol_changed": "2001-07-02" }, "entity_type": "gene", "entity_name": "BSCL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16765570" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Silver spastic paraplegia syndrome MIM#270685", "Neuropathy, distal hereditary motor, type VA MIM#600794" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 25, "hash_id": null, "name": "Motor Neurone Disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. 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It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "1.48", "version_created": "2026-03-31T16:37:58.241144+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 79, "number_of_strs": 4, "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": [] }, { "gene_data": { "alias": [ "NACP", "PD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11138", "gene_name": "synuclein alpha", "omim_gene": [ "163890" ], "alias_name": [ "non A4 component of amyloid precursor", "alpha-synuclein", "α-synuclein" ], "gene_symbol": "SNCA", "hgnc_symbol": "SNCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:90645250-90759466", "ensembl_id": "ENSG00000145335" } }, "GRch38": { "90": { "location": "4:89724099-89838315", "ensembl_id": "ENSG00000145335" } } }, "hgnc_date_symbol_changed": "1995-01-24" }, "entity_type": "gene", "entity_name": "SNCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32849182", "26858591", "32740728" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dementia, Lewy body (MIM#127750)", "Parkinson disease 1 (MIM#168601)", "Parkinson disease 4 (MIM#605543)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "SV/CNV" ], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DAT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11049", "gene_name": "solute carrier family 6 member 3", "omim_gene": [ "126455" ], "alias_name": [ "dopamine transporter" ], "gene_symbol": "SLC6A3", "hgnc_symbol": "SLC6A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:1392909-1445545", "ensembl_id": "ENSG00000142319" } }, "GRch38": { "90": { "location": "5:1392790-1445430", "ensembl_id": "ENSG00000142319" } } }, "hgnc_date_symbol_changed": "1994-03-16" }, "entity_type": "gene", "entity_name": "SLC6A3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21112253" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Parkinsonism-dystonia, infantile, 1, MIM# 613135" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0062", "NET34", "ZIP14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20858", "gene_name": "solute carrier family 39 member 14", "omim_gene": [ "608736" ], "alias_name": null, "gene_symbol": "SLC39A14", "hgnc_symbol": "SLC39A14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:22224762-22291642", "ensembl_id": "ENSG00000104635" } }, "GRch38": { "90": { "location": "8:22367249-22434129", "ensembl_id": "ENSG00000104635" } } }, "hgnc_date_symbol_changed": "2003-10-23" }, "entity_type": "gene", "entity_name": "SLC39A14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27231142", "32626807", "29685658", "30232769" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypermanganesemia with dystonia 2 (MIM# 617013)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp547M236", "ZnT-10", "ZRC1", "ZNT8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25355", "gene_name": "solute carrier family 30 member 10", "omim_gene": [ "611146" ], "alias_name": [ "zinc transporter 8" ], "gene_symbol": "SLC30A10", "hgnc_symbol": "SLC30A10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:219858769-220131989", "ensembl_id": "ENSG00000196660" } }, "GRch38": { "90": { "location": "1:219685427-219958647", "ensembl_id": "ENSG00000196660" } } }, "hgnc_date_symbol_changed": "2005-09-06" }, "entity_type": "gene", "entity_name": "SLC30A10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22341971", "22341972" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.", "status": "public", "version": "2.51", "version_created": "2026-03-30T11:47:22.375379+11:00", "relevant_disorders": [ "Abnormality of extrapyramidal motor function", "HP:0002071" ], "stats": { "number_of_genes": 129, "number_of_strs": 14, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Melbourne Genomics", "slug": "melbourne-genomics", "description": "Panel used by a Melbourne Genomics project." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PiT-2", "Glvr-2", "Ram-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10947", "gene_name": "solute carrier family 20 member 2", "omim_gene": [ "158378" ], "alias_name": null, "gene_symbol": "SLC20A2", "hgnc_symbol": "SLC20A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42273993-42397069", "ensembl_id": "ENSG00000168575" } }, "GRch38": { "90": { "location": "8:42416475-42541926", "ensembl_id": "ENSG00000168575" } } }, "hgnc_date_symbol_changed": "1993-06-18" }, "entity_type": "gene", "entity_name": "SLC20A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22327515", "23334463" ], "evidence": [ "Expert Review Green", "Melbourne Genomics Health Alliance Complex Neurology Flagship", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Basal ganglia calcification, idiopathic, 1, MIM# 213600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 26, "hash_id": null, "name": "Early-onset Parkinson disease", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. 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