Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=28
{ "count": 35518, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=29", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=27", "results": [ { "gene_data": { "alias": [ "FLJ21016", "GID7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21208", "gene_name": "WD repeat domain 26", "omim_gene": [ "617424" ], "alias_name": [ "GID complex subunit 7 homolog (S. cerevisiae)" ], "gene_symbol": "WDR26", "hgnc_symbol": "WDR26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:224572845-224624735", "ensembl_id": "ENSG00000162923" } }, "GRch38": { "90": { "location": "1:224385143-224437033", "ensembl_id": "ENSG00000162923" } } }, "hgnc_date_symbol_changed": "2003-07-14" }, "entity_type": "gene", "entity_name": "WDR26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33528536", "34788679" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Skraban-Deardorff syndrome\tMIM#617616" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "DKFZP564F0923", "KIAA1471", "HD-PTP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14406", "gene_name": "protein tyrosine phosphatase, non-receptor type 23", "omim_gene": [ "606584" ], "alias_name": null, "gene_symbol": "PTPN23", "hgnc_symbol": "PTPN23", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:47422501-47454931", "ensembl_id": "ENSG00000076201" } }, "GRch38": { "90": { "location": "3:47381011-47413441", "ensembl_id": "ENSG00000076201" } } }, "hgnc_date_symbol_changed": "2001-02-15" }, "entity_type": "gene", "entity_name": "PTPN23", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31395947", "25558065", "34064836" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "RAB3GAP", "KIAA0066", "RAB3GAP130", "WARBM1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17063", "gene_name": "RAB3 GTPase activating protein catalytic subunit 1", "omim_gene": [ "602536" ], "alias_name": null, "gene_symbol": "RAB3GAP1", "hgnc_symbol": "RAB3GAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:135809835-135933964", "ensembl_id": "ENSG00000115839" } }, "GRch38": { "90": { "location": "2:135052265-135176394", "ensembl_id": "ENSG00000115839" } } }, "hgnc_date_symbol_changed": "2005-08-23" }, "entity_type": "gene", "entity_name": "RAB3GAP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33528536", "16532399", "27081543" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Martsolf syndrome 2 MIM#619420", "Warburg micro syndrome MIM#600118" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "DBP-5", "NREBP", "KIAA1019", "BASS1", "FLJ21099", "FLJ33914" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11183", "gene_name": "SON DNA binding protein", "omim_gene": [ "182465" ], "alias_name": [ "NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1" ], "gene_symbol": "SON", "hgnc_symbol": "SON", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:34914924-34949812", "ensembl_id": "ENSG00000159140" } }, "GRch38": { "90": { "location": "21:33542618-33577481", "ensembl_id": "ENSG00000159140" } } }, "hgnc_date_symbol_changed": "1994-08-05" }, "entity_type": "gene", "entity_name": "SON", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33528536" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "ZTTK syndrome MIM#617140" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "DKFZP564B1023", "ZNHIT5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25360", "gene_name": "DEAD-box helicase 59", "omim_gene": [ "615464" ], "alias_name": null, "gene_symbol": "DDX59", "hgnc_symbol": "DDX59", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:200593024-200639097", "ensembl_id": "ENSG00000118197" } }, "GRch38": { "90": { "location": "1:200623896-200669969", "ensembl_id": "ENSG00000118197" } } }, "hgnc_date_symbol_changed": "2005-02-22" }, "entity_type": "gene", "entity_name": "DDX59", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Orofaciodigital syndrome V, MIM#174300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:2860", "gene_name": "7-dehydrocholesterol reductase", "omim_gene": [ "602858" ], "alias_name": null, "gene_symbol": "DHCR7", "hgnc_symbol": "DHCR7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:71139239-71163914", "ensembl_id": "ENSG00000172893" } }, "GRch38": { "90": { "location": "11:71428193-71452868", "ensembl_id": "ENSG00000172893" } } }, "hgnc_date_symbol_changed": "1998-04-27" }, "entity_type": "gene", "entity_name": "DHCR7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Smith-Lemli-Opitz syndrome, MIM#270400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "Cav2.2", "CACNN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1389", "gene_name": "calcium voltage-gated channel subunit alpha1 B", "omim_gene": [ "601012" ], "alias_name": null, "gene_symbol": "CACNA1B", "hgnc_symbol": "CACNA1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:140772241-141019076", "ensembl_id": "ENSG00000148408" } }, "GRch38": { "90": { "location": "9:137877789-138124624", "ensembl_id": "ENSG00000148408" } } }, "hgnc_date_symbol_changed": "1995-06-01" }, "entity_type": "gene", "entity_name": "CACNA1B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "KIAA0373", "FLJ13615", "3H11Ag", "rd16", "NPHP6", "JBTS5", "SLSN6", "LCA10", "MKS4", "BBS14", "CT87", "POC3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29021", "gene_name": "centrosomal protein 290", "omim_gene": [ "610142" ], "alias_name": [ "Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4", "Bardet-Biedl syndrome 14" ], "gene_symbol": "CEP290", "hgnc_symbol": "CEP290", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:88442793-88535993", "ensembl_id": "ENSG00000198707" } }, "GRch38": { "90": { "location": "12:88049014-88142216", "ensembl_id": "ENSG00000198707" } } }, "hgnc_date_symbol_changed": "2006-02-20" }, "entity_type": "gene", "entity_name": "CEP290", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Joubert syndrome 5, MIM#610188" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:2213", "gene_name": "collagen type VI alpha 3 chain", "omim_gene": [ "120250" ], "alias_name": null, "gene_symbol": "COL6A3", "hgnc_symbol": "COL6A3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:238232646-238323018", "ensembl_id": "ENSG00000163359" } }, "GRch38": { "90": { "location": "2:237324003-237414375", "ensembl_id": "ENSG00000163359" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "COL6A3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Dystonia 27, MIM#616411" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "hDIA1", "LFHL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2876", "gene_name": "diaphanous related formin 1", "omim_gene": [ "602121" ], "alias_name": null, "gene_symbol": "DIAPH1", "hgnc_symbol": "DIAPH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140894583-140998622", "ensembl_id": "ENSG00000131504" } }, "GRch38": { "90": { "location": "5:141515016-141619055", "ensembl_id": "ENSG00000131504" } } }, "hgnc_date_symbol_changed": "1998-03-17" }, "entity_type": "gene", "entity_name": "DIAPH1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247", "34125151" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Seizures, cortical blindness, and microcephaly syndrome, MIM#616632" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:746", "gene_name": "argininosuccinate lyase", "omim_gene": [ "608310" ], "alias_name": null, "gene_symbol": "ASL", "hgnc_symbol": "ASL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:65540785-65558545", "ensembl_id": "ENSG00000126522" } }, "GRch38": { "90": { "location": "7:66075798-66093558", "ensembl_id": "ENSG00000126522" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ASL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Argininosuccinic aciduria, MIM#207900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "ASP", "ACY2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:756", "gene_name": "aspartoacylase", "omim_gene": [ "608034" ], "alias_name": [ "aminoacylase 2", "Canavan disease" ], "gene_symbol": "ASPA", "hgnc_symbol": "ASPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:3375668-3406713", "ensembl_id": "ENSG00000108381" } }, "GRch38": { "90": { "location": "17:3472374-3503419", "ensembl_id": "ENSG00000108381" } } }, "hgnc_date_symbol_changed": "1993-12-09" }, "entity_type": "gene", "entity_name": "ASPA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Canavan disease, MIM#271900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:713", "gene_name": "arylsulfatase A", "omim_gene": [ "607574" ], "alias_name": [ "metachromatic leucodystrophy" ], "gene_symbol": "ARSA", "hgnc_symbol": "ARSA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:51061182-51066607", "ensembl_id": "ENSG00000100299" } }, "GRch38": { "90": { "location": "22:50622754-50628173", "ensembl_id": "ENSG00000100299" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ARSA", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Metachromatic leukodystrophy, MIM#250100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FRP1", "SCKL", "SCKL1", "MEC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:882", "gene_name": "ATR serine/threonine kinase", "omim_gene": [ "601215" ], "alias_name": [ "MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)" ], "gene_symbol": "ATR", "hgnc_symbol": "ATR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:142168077-142297668", "ensembl_id": "ENSG00000175054" } }, "GRch38": { "90": { "location": "3:142449235-142578826", "ensembl_id": "ENSG00000175054" } } }, "hgnc_date_symbol_changed": "1998-04-06" }, "entity_type": "gene", "entity_name": "ATR", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Seckel syndrome, MIM#210600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "NPD002", "MGC14452" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21497", "gene_name": "acyl-CoA dehydrogenase family member 9", "omim_gene": [ "611103" ], "alias_name": null, "gene_symbol": "ACAD9", "hgnc_symbol": "ACAD9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:128598439-128634910", "ensembl_id": "ENSG00000177646" } }, "GRch38": { "90": { "location": "3:128879596-128916067", "ensembl_id": "ENSG00000177646" } } }, "hgnc_date_symbol_changed": "2003-06-18" }, "entity_type": "gene", "entity_name": "ACAD9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 20, MIM#611126" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ12584", "KIAA1868", "ARM", "KU-MEL-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20730", "gene_name": "armadillo repeat containing 9", "omim_gene": [ "617612" ], "alias_name": null, "gene_symbol": "ARMC9", "hgnc_symbol": "ARMC9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:232063260-232239548", "ensembl_id": "ENSG00000135931" } }, "GRch38": { "90": { "location": "2:231198546-231374837", "ensembl_id": "ENSG00000135931" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "ARMC9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Joubert syndrome 30, MIM#617622" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "beta1-4GalNAc-T" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4117", "gene_name": "beta-1,4-N-acetyl-galactosaminyltransferase 1", "omim_gene": [ "601873" ], "alias_name": [ "GD2 synthase, GM2 synthase" ], "gene_symbol": "B4GALNT1", "hgnc_symbol": "B4GALNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:58017193-58027138", "ensembl_id": "ENSG00000135454" } }, "GRch38": { "90": { "location": "12:57623410-57633355", "ensembl_id": "ENSG00000135454" } } }, "hgnc_date_symbol_changed": "2006-01-08" }, "entity_type": "gene", "entity_name": "B4GALNT1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Spastic paraplegia 26, autosomal recessive, MIM#609195" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "P138-TOX", "P138(TOX)", "THOX2", "LNOX2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13273", "gene_name": "dual oxidase 2", "omim_gene": [ "606759" ], "alias_name": [ "dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2" ], "gene_symbol": "DUOX2", "hgnc_symbol": "DUOX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:45384848-45406542", "ensembl_id": "ENSG00000140279" } }, "GRch38": { "90": { "location": "15:45092650-45114344", "ensembl_id": "ENSG00000140279" } } }, "hgnc_date_symbol_changed": "2000-11-09" }, "entity_type": "gene", "entity_name": "DUOX2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Thyroid dyshormonogenesis 6, MIM#607200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "DQ2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3098", "gene_name": "torsin family 1 member A", "omim_gene": [ "605204" ], "alias_name": [ "torsin A" ], "gene_symbol": "TOR1A", "hgnc_symbol": "TOR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:132575223-132586413", "ensembl_id": "ENSG00000136827" } }, "GRch38": { "90": { "location": "9:129812944-129824134", "ensembl_id": "ENSG00000136827" } } }, "hgnc_date_symbol_changed": "2004-11-26" }, "entity_type": "gene", "entity_name": "TOR1A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Dystonia-1, torsion, MIM#128100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "tuberin", "LAM", "PPP1R160" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12363", "gene_name": "TSC complex subunit 2", "omim_gene": [ "191092" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 160" ], "gene_symbol": "TSC2", "hgnc_symbol": "TSC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:2097466-2138716", "ensembl_id": "ENSG00000103197" } }, "GRch38": { "90": { "location": "16:2047465-2088720", "ensembl_id": "ENSG00000103197" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "TSC2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Tuberous sclerosis-2, MIM#613254" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "dJ734P14.3", "TGY", "SCA35" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16255", "gene_name": "transglutaminase 6", "omim_gene": [ "613900" ], "alias_name": [ "spinocerebellar ataxia 35" ], "gene_symbol": "TGM6", "hgnc_symbol": "TGM6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:2361554-2413399", "ensembl_id": "ENSG00000166948" } }, "GRch38": { "90": { "location": "20:2380908-2432753", "ensembl_id": "ENSG00000166948" } } }, "hgnc_date_symbol_changed": "2004-07-07" }, "entity_type": "gene", "entity_name": "TGM6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia 35, MIM#613908" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "LGR3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12373", "gene_name": "thyroid stimulating hormone receptor", "omim_gene": [ "603372" ], "alias_name": null, "gene_symbol": "TSHR", "hgnc_symbol": "TSHR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:81421333-81612646", "ensembl_id": "ENSG00000165409" } }, "GRch38": { "90": { "location": "14:80954989-81146302", "ensembl_id": "ENSG00000165409" } } }, "hgnc_date_symbol_changed": "1990-03-05" }, "entity_type": "gene", "entity_name": "TSHR", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hyperthyroidism, nonautoimmune, MIM#609152" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "TUBGCP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12417", "gene_name": "tubulin gamma 1", "omim_gene": [ "191135" ], "alias_name": null, "gene_symbol": "TUBG1", "hgnc_symbol": "TUBG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40761694-40767252", "ensembl_id": "ENSG00000131462" } }, "GRch38": { "90": { "location": "17:42609676-42615234", "ensembl_id": "ENSG00000131462" } } }, "hgnc_date_symbol_changed": "2000-01-20" }, "entity_type": "gene", "entity_name": "TUBG1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 4, MIM#615412" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "hEPG5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29331", "gene_name": "ectopic P-granules autophagy protein 5 homolog", "omim_gene": [ "615068" ], "alias_name": null, "gene_symbol": "EPG5", "hgnc_symbol": "EPG5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:43427574-43547240", "ensembl_id": "ENSG00000152223" } }, "GRch38": { "90": { "location": "18:45847609-45967274", "ensembl_id": "ENSG00000152223" } } }, "hgnc_date_symbol_changed": "2011-03-02" }, "entity_type": "gene", "entity_name": "EPG5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Vici syndrome, MIM#242840" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "C2H2-171", "TAZ-1", "RP58" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13030", "gene_name": "zinc finger and BTB domain containing 18", "omim_gene": [ "608433" ], "alias_name": null, "gene_symbol": "ZBTB18", "hgnc_symbol": "ZBTB18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:244214585-244220778", "ensembl_id": "ENSG00000179456" } }, "GRch38": { "90": { "location": "1:244048939-244057476", "ensembl_id": "ENSG00000179456" } } }, "hgnc_date_symbol_changed": "2013-01-09" }, "entity_type": "gene", "entity_name": "ZBTB18", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 22, MIM#612337" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:4115", "gene_name": "galactosylceramidase", "omim_gene": [ "606890" ], "alias_name": [ "Krabbe disease" ], "gene_symbol": "GALC", "hgnc_symbol": "GALC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:88304164-88460009", "ensembl_id": "ENSG00000054983" } }, "GRch38": { "90": { "location": "14:87837820-87993665", "ensembl_id": "ENSG00000054983" } } }, "hgnc_date_symbol_changed": "1989-06-02" }, "entity_type": "gene", "entity_name": "GALC", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Krabbe disease, MIM#245200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "IMAGE:4942737", "DKFZp547D065", "DMP4", "G-CK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22140", "gene_name": "FAM20C, golgi associated secretory pathway kinase", "omim_gene": [ "611061" ], "alias_name": [ "dentin matrix protein 4", "golgi casein kinase" ], "gene_symbol": "FAM20C", "hgnc_symbol": "FAM20C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:192969-300711", "ensembl_id": "ENSG00000177706" } }, "GRch38": { "90": { "location": "7:192969-260745", "ensembl_id": "ENSG00000177706" } } }, "hgnc_date_symbol_changed": "2003-09-03" }, "entity_type": "gene", "entity_name": "FAM20C", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Raine syndrome, MIM#259775" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "GBA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4177", "gene_name": "glucosylceramidase beta", "omim_gene": [ "606463" ], "alias_name": null, "gene_symbol": "GBA", "hgnc_symbol": "GBA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155204243-155214490", "ensembl_id": "ENSG00000177628" } }, "GRch38": { "90": { "location": "1:155234452-155244699", "ensembl_id": "ENSG00000177628" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GBA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Gaucher disease, MIM#231000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "msk" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11142", "gene_name": "salt inducible kinase 1", "omim_gene": [ "605705" ], "alias_name": [ "myocardial SNF1-like kinase" ], "gene_symbol": "SIK1", "hgnc_symbol": "SIK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:44834395-44847008", "ensembl_id": "ENSG00000142178" } }, "GRch38": { "90": { "location": "21:43414515-43427128", "ensembl_id": "ENSG00000142178" } } }, "hgnc_date_symbol_changed": "2008-12-23" }, "entity_type": "gene", "entity_name": "SIK1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 30, MIM#616341" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "GLT-1", "EAAT2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10940", "gene_name": "solute carrier family 1 member 2", "omim_gene": [ "600300" ], "alias_name": null, "gene_symbol": "SLC1A2", "hgnc_symbol": "SLC1A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:35272753-35441610", "ensembl_id": "ENSG00000110436" } }, "GRch38": { "90": { "location": "11:35251206-35420063", "ensembl_id": "ENSG00000110436" } } }, "hgnc_date_symbol_changed": "1994-02-15" }, "entity_type": "gene", "entity_name": "SLC1A2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247", "PMID:33528536" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 41, MIM#617105" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:10808", "gene_name": "sarcoglycan epsilon", "omim_gene": [ "604149" ], "alias_name": null, "gene_symbol": "SGCE", "hgnc_symbol": "SGCE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:94214542-94285521", "ensembl_id": "ENSG00000127990" } }, "GRch38": { "90": { "location": "7:94585230-94656209", "ensembl_id": "ENSG00000127990" } } }, "hgnc_date_symbol_changed": "1999-01-11" }, "entity_type": "gene", "entity_name": "SGCE", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Dystonia-11, myoclonic, MIM#159900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "GLYT2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11051", "gene_name": "solute carrier family 6 member 5", "omim_gene": [ "604159" ], "alias_name": [ "glycine transporter 2" ], "gene_symbol": "SLC6A5", "hgnc_symbol": "SLC6A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:20620946-20680831", "ensembl_id": "ENSG00000165970" } }, "GRch38": { "90": { "location": "11:20599400-20659285", "ensembl_id": "ENSG00000165970" } } }, "hgnc_date_symbol_changed": "1997-12-05" }, "entity_type": "gene", "entity_name": "SLC6A5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hyperekplexia 3, MIM#614618" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "Wip1", "PP2C-DELTA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9277", "gene_name": "protein phosphatase, Mg2+/Mn2+ dependent 1D", "omim_gene": [ "605100" ], "alias_name": [ "wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform" ], "gene_symbol": "PPM1D", "hgnc_symbol": "PPM1D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:58677544-58741849", "ensembl_id": "ENSG00000170836" } }, "GRch38": { "90": { "location": "17:60600183-60666280", "ensembl_id": "ENSG00000170836" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "PPM1D", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Jansen-de Vries syndrome, MIM#617450" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "SEB", "KIAA0437" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15573", "gene_name": "SET binding protein 1", "omim_gene": [ "611060" ], "alias_name": null, "gene_symbol": "SETBP1", "hgnc_symbol": "SETBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:42260138-42648475", "ensembl_id": "ENSG00000152217" } }, "GRch38": { "90": { "location": "18:44680173-45068510", "ensembl_id": "ENSG00000152217" } } }, "hgnc_date_symbol_changed": "2001-06-05" }, "entity_type": "gene", "entity_name": "SETBP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 29, MIM#616078", "Schinzel-Giedion midface retraction syndrome, MIM#269150" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "HYPB", "HIF-1", "KIAA1732", "FLJ23184", "KMT3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18420", "gene_name": "SET domain containing 2", "omim_gene": [ "612778" ], "alias_name": null, "gene_symbol": "SETD2", "hgnc_symbol": "SETD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:47057919-47205457", "ensembl_id": "ENSG00000181555" } }, "GRch38": { "90": { "location": "3:47016429-47163967", "ensembl_id": "ENSG00000181555" } } }, "hgnc_date_symbol_changed": "2006-02-15" }, "entity_type": "gene", "entity_name": "SETD2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247", "33528536" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 70, MIM#620157", "Luscan-Lumish syndrome, MIM#61683", "Rabin-Pappas syndrome, MIM#620155" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "BAF190", "hSNF2a", "hBRM", "Sth1p", "SNF2LA", "BRM", "SNF2", "SWI2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11098", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2", "omim_gene": [ "600014" ], "alias_name": [ "brahma homolog" ], "gene_symbol": "SMARCA2", "hgnc_symbol": "SMARCA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:2015342-2193624", "ensembl_id": "ENSG00000080503" } }, "GRch38": { "90": { "location": "9:1980290-2193624", "ensembl_id": "ENSG00000080503" } } }, "hgnc_date_symbol_changed": "1994-07-22" }, "entity_type": "gene", "entity_name": "SMARCA2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Blepharophimosis-impaired intellectual development syndrome, MIM#619293", "Nicolaides-Baraitser syndrome, MIM#601358" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "ARA267", "FLJ22263", "KMT3B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14234", "gene_name": "nuclear receptor binding SET domain protein 1", "omim_gene": [ "606681" ], "alias_name": null, "gene_symbol": "NSD1", "hgnc_symbol": "NSD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:176560026-176727216", "ensembl_id": "ENSG00000165671" } }, "GRch38": { "90": { "location": "5:177133025-177300215", "ensembl_id": "ENSG00000165671" } } }, "hgnc_date_symbol_changed": "2002-02-25" }, "entity_type": "gene", "entity_name": "NSD1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Sotos syndrome, MIM#117550" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "MMSET", "KMT3G" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12766", "gene_name": "nuclear receptor binding SET domain protein 2", "omim_gene": [ "602952" ], "alias_name": [ "multiple myeloma SET domain containing protein" ], "gene_symbol": "NSD2", "hgnc_symbol": "NSD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:1873151-1983934", "ensembl_id": "ENSG00000109685" } }, "GRch38": { "90": { "location": "4:1871424-1982207", "ensembl_id": "ENSG00000109685" } } }, "hgnc_date_symbol_changed": "2016-11-18" }, "entity_type": "gene", "entity_name": "NSD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Rauch-Steindl syndrome, MIM#619695" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "EAR-3", "COUP-TFI", "TCFCOUP1", "SVP44" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7975", "gene_name": "nuclear receptor subfamily 2 group F member 1", "omim_gene": [ "132890" ], "alias_name": null, "gene_symbol": "NR2F1", "hgnc_symbol": "NR2F1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:92919043-92930321", "ensembl_id": "ENSG00000175745" } }, "GRch38": { "90": { "location": "5:93583337-93594615", "ensembl_id": "ENSG00000175745" } } }, "hgnc_date_symbol_changed": "1995-03-21" }, "entity_type": "gene", "entity_name": "NR2F1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722", "NR2F1-related neurodevelopmental disorder" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ10209", "KIAA1175" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30032", "gene_name": "phosphofurin acidic cluster sorting protein 1", "omim_gene": [ "607492" ], "alias_name": null, "gene_symbol": "PACS1", "hgnc_symbol": "PACS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65837834-66012218", "ensembl_id": "ENSG00000175115" } }, "GRch38": { "90": { "location": "11:66070363-66244747", "ensembl_id": "ENSG00000175115" } } }, "hgnc_date_symbol_changed": "2005-01-05" }, "entity_type": "gene", "entity_name": "PACS1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Schuurs-Hoeijmakers syndrome, MIM#615009" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "NFI-RED", "NFIB2", "NFIB3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7785", "gene_name": "nuclear factor I B", "omim_gene": [ "600728" ], "alias_name": null, "gene_symbol": "NFIB", "hgnc_symbol": "NFIB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:14081842-14398982", "ensembl_id": "ENSG00000147862" } }, "GRch38": { "90": { "location": "9:14081843-14398983", "ensembl_id": "ENSG00000147862" } } }, "hgnc_date_symbol_changed": "1995-03-09" }, "entity_type": "gene", "entity_name": "NFIB", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Macrocephaly, acquired, with impaired intellectual development, MIM#618286" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:7881", "gene_name": "notch 1", "omim_gene": [ "190198" ], "alias_name": null, "gene_symbol": "NOTCH1", "hgnc_symbol": "NOTCH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139388896-139440314", "ensembl_id": "ENSG00000148400" } }, "GRch38": { "90": { "location": "9:136494444-136545862", "ensembl_id": "ENSG00000148400" } } }, "hgnc_date_symbol_changed": "1992-02-13" }, "entity_type": "gene", "entity_name": "NOTCH1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Adams-Oliver syndrome 5, MIM#616028" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "ndrp", "FLJ20705", "DCAF14", "BRWD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15673", "gene_name": "pleckstrin homology domain interacting protein", "omim_gene": [ "612870" ], "alias_name": [ "DDB1 and CUL4 associated factor 14" ], "gene_symbol": "PHIP", "hgnc_symbol": "PHIP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:79645584-79787953", "ensembl_id": "ENSG00000146247" } }, "GRch38": { "90": { "location": "6:78935867-79078236", "ensembl_id": "ENSG00000146247" } } }, "hgnc_date_symbol_changed": "2001-05-04" }, "entity_type": "gene", "entity_name": "PHIP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Chung-Jansen syndrome, MIM#617991" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "hSNF2b", "BRG1", "BAF190", "SNF2", "SWI2", "SNF2-BETA", "SNF2LB", "FLJ39786" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11100", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4", "omim_gene": [ "603254" ], "alias_name": [ "SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4" ], "gene_symbol": "SMARCA4", "hgnc_symbol": "SMARCA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:11071598-11176071", "ensembl_id": "ENSG00000127616" } }, "GRch38": { "90": { "location": "19:10961001-11065395", "ensembl_id": "ENSG00000127616" } } }, "hgnc_date_symbol_changed": "1995-07-17" }, "entity_type": "gene", "entity_name": "SMARCA4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Coffin-Siris syndrome 4, MIM#614609" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ11113", "KIAA1461" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20444", "gene_name": "methyl-CpG binding domain protein 5", "omim_gene": [ "611472" ], "alias_name": null, "gene_symbol": "MBD5", "hgnc_symbol": "MBD5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:148778580-149275805", "ensembl_id": "ENSG00000204406" } }, "GRch38": { "90": { "location": "2:148021011-148516971", "ensembl_id": "ENSG00000204406" } } }, "hgnc_date_symbol_changed": "2003-03-03" }, "entity_type": "gene", "entity_name": "MBD5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 1, MIM#156200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "KIAA1025", "TRAP240L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22962", "gene_name": "mediator complex subunit 13 like", "omim_gene": [ "608771" ], "alias_name": null, "gene_symbol": "MED13L", "hgnc_symbol": "MED13L", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:116395711-116715143", "ensembl_id": "ENSG00000123066" } }, "GRch38": { "90": { "location": "12:115953872-116277338", "ensembl_id": "ENSG00000123066" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "MED13L", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "KIAA0465", "ACF7", "ABP620", "KIAA1251", "MACF", "FLJ45612", "FLJ46776" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13664", "gene_name": "microtubule-actin crosslinking factor 1", "omim_gene": [ "608271" ], "alias_name": [ "actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7" ], "gene_symbol": "MACF1", "hgnc_symbol": "MACF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:39546988-39952849", "ensembl_id": "ENSG00000127603" } }, "GRch38": { "90": { "location": "1:39081316-39487177", "ensembl_id": "ENSG00000127603" } } }, "hgnc_date_symbol_changed": "2002-01-09" }, "entity_type": "gene", "entity_name": "MACF1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Lissencephaly 9 with complex brainstem malformation, MIM#618325" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "MYH2A", "MYHSA2", "MyHC-IIa", "MYHas8", "MyHC-2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7572", "gene_name": "myosin heavy chain 2", "omim_gene": [ "160740" ], "alias_name": null, "gene_symbol": "MYH2", "hgnc_symbol": "MYH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:10424465-10453274", "ensembl_id": "ENSG00000125414" } }, "GRch38": { "90": { "location": "17:10521148-10549957", "ensembl_id": "ENSG00000125414" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MYH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Congenital myopathy 6 with ophthalmoplegia, MIM#605637" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "Kv7.3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6297", "gene_name": "potassium voltage-gated channel subfamily Q member 3", "omim_gene": [ "602232" ], "alias_name": null, "gene_symbol": "KCNQ3", "hgnc_symbol": "KCNQ3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:133133108-133493200", "ensembl_id": "ENSG00000184156" } }, "GRch38": { "90": { "location": "8:132120858-132481019", "ensembl_id": "ENSG00000184156" } } }, "hgnc_date_symbol_changed": "1998-01-12" }, "entity_type": "gene", "entity_name": "KCNQ3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Seizures, benign neonatal, 2, MIM#121201" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "Kv7.5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6299", "gene_name": "potassium voltage-gated channel subfamily Q member 5", "omim_gene": [ "607357" ], "alias_name": null, "gene_symbol": "KCNQ5", "hgnc_symbol": "KCNQ5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:73331520-73908574", "ensembl_id": "ENSG00000185760" } }, "GRch38": { "90": { "location": "6:72621792-73198851", "ensembl_id": "ENSG00000185760" } } }, "hgnc_date_symbol_changed": "2000-08-11" }, "entity_type": "gene", "entity_name": "KCNQ5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 46, MIM#617601" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "ALR", "MLL4", "CAGL114" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7133", "gene_name": "lysine methyltransferase 2D", "omim_gene": [ "602113" ], "alias_name": null, "gene_symbol": "KMT2D", "hgnc_symbol": "KMT2D", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:49412758-49453557", "ensembl_id": "ENSG00000167548" } }, "GRch38": { "90": { "location": "12:49018975-49059774", "ensembl_id": "ENSG00000167548" } } }, "hgnc_date_symbol_changed": "2013-05-09" }, "entity_type": "gene", "entity_name": "KMT2D", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Kabuki syndrome 1, MIM#147920" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "NFL", "CMT1F", "CMT2E", "NF68", "PPP1R110" ], "biotype": null, "hgnc_id": "HGNC:7739", "gene_name": "neurofilament light", "omim_gene": [ "162280" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 110" ], "gene_symbol": "NEFL", "hgnc_symbol": "NEFL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:24808468-24814624", "ensembl_id": "ENSG00000104725" } }, "GRch38": { "90": { "location": "8:24950955-24957110", "ensembl_id": "ENSG00000277586" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "NEFL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "GluN2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4585", "gene_name": "glutamate ionotropic receptor NMDA type subunit 2A", "omim_gene": [ "138253" ], "alias_name": null, "gene_symbol": "GRIN2A", "hgnc_symbol": "GRIN2A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:9852376-10276611", "ensembl_id": "ENSG00000183454" } }, "GRch38": { "90": { "location": "16:9753404-10182754", "ensembl_id": "ENSG00000183454" } } }, "hgnc_date_symbol_changed": "1992-09-18" }, "entity_type": "gene", "entity_name": "GRIN2A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "MBP-2", "HIV-EP2", "MIBP1", "ZAS2", "Schnurri-2", "ZNF40B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4921", "gene_name": "human immunodeficiency virus type I enhancer binding protein 2", "omim_gene": [ "143054" ], "alias_name": [ "c-myc intron binding protein 1" ], "gene_symbol": "HIVEP2", "hgnc_symbol": "HIVEP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:143072604-143266338", "ensembl_id": "ENSG00000010818" } }, "GRch38": { "90": { "location": "6:142751467-142956698", "ensembl_id": "ENSG00000010818" } } }, "hgnc_date_symbol_changed": "1992-10-21" }, "entity_type": "gene", "entity_name": "HIVEP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 43, MIM#616977" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "P66beta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30778", "gene_name": "GATA zinc finger domain containing 2B", "omim_gene": [ "614998" ], "alias_name": [ "transcription repressor p66 beta component of the MeCP1 complex" ], "gene_symbol": "GATAD2B", "hgnc_symbol": "GATAD2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:153777201-153895451", "ensembl_id": "ENSG00000143614" } }, "GRch38": { "90": { "location": "1:153789030-153923360", "ensembl_id": "ENSG00000143614" } } }, "hgnc_date_symbol_changed": "2005-03-31" }, "entity_type": "gene", "entity_name": "GATAD2B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "GAND syndrome, MIM#615076" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "querkopf", "qkf", "Morf", "MOZ2", "ZC2HC6B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17582", "gene_name": "lysine acetyltransferase 6B", "omim_gene": [ "605880" ], "alias_name": [ "MOZ-related factor" ], "gene_symbol": "KAT6B", "hgnc_symbol": "KAT6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:76585340-76792380", "ensembl_id": "ENSG00000156650" } }, "GRch38": { "90": { "location": "10:74825582-75032622", "ensembl_id": "ENSG00000156650" } } }, "hgnc_date_symbol_changed": "2011-07-21" }, "entity_type": "gene", "entity_name": "KAT6B", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "SBBYSS syndrome, MIM#603736", "Genitopatellar syndrome, MIM#606170" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "HG20", "GABABR2", "GPRC3B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4507", "gene_name": "gamma-aminobutyric acid type B receptor subunit 2", "omim_gene": [ "607340" ], "alias_name": null, "gene_symbol": "GABBR2", "hgnc_symbol": "GABBR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:101050391-101471479", "ensembl_id": "ENSG00000136928" } }, "GRch38": { "90": { "location": "9:98288082-98709197", "ensembl_id": "ENSG00000136928" } } }, "hgnc_date_symbol_changed": "2006-02-16" }, "entity_type": "gene", "entity_name": "GABBR2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 59, MIM#617904", "Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "Kv10.1", "eag", "h-eag", "eag1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6250", "gene_name": "potassium voltage-gated channel subfamily H member 1", "omim_gene": [ "603305" ], "alias_name": null, "gene_symbol": "KCNH1", "hgnc_symbol": "KCNH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:210856555-211307457", "ensembl_id": "ENSG00000143473" } }, "GRch38": { "90": { "location": "1:210676823-211134180", "ensembl_id": "ENSG00000143473" } } }, "hgnc_date_symbol_changed": "1993-03-22" }, "entity_type": "gene", "entity_name": "KCNH1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Temple-Baraitser syndrome, MIM#611816", "Zimmermann-Laband syndrome 1, MIM#135500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "NRF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7782", "gene_name": "nuclear factor, erythroid 2 like 2", "omim_gene": [ "600492" ], "alias_name": [ "NF-E2-related factor 2" ], "gene_symbol": "NFE2L2", "hgnc_symbol": "NFE2L2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:178092323-178257425", "ensembl_id": "ENSG00000116044" } }, "GRch38": { "90": { "location": "2:177227595-177392697", "ensembl_id": "ENSG00000116044" } } }, "hgnc_date_symbol_changed": "1994-03-24" }, "entity_type": "gene", "entity_name": "NFE2L2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Immunodeficiency, developmental delay, and hypohomocysteinemia , MIM#617744" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "HCAP", "BAM", "SMC3L1", "bamacan" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2468", "gene_name": "structural maintenance of chromosomes 3", "omim_gene": [ "606062" ], "alias_name": [ "bamacan proteoglycan" ], "gene_symbol": "SMC3", "hgnc_symbol": "SMC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:112327449-112364394", "ensembl_id": "ENSG00000108055" } }, "GRch38": { "90": { "location": "10:110567691-110604636", "ensembl_id": "ENSG00000108055" } } }, "hgnc_date_symbol_changed": "2006-07-06" }, "entity_type": "gene", "entity_name": "SMC3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cornelia de Lange syndrome 3, MIM#610759" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "DYNII", "DYN2", "CMTDIB", "CMTDI1", "DI-CMTB", "CMT2M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2974", "gene_name": "dynamin 2", "omim_gene": [ "602378" ], "alias_name": [ "dynamin II", "cytoskeletal protein" ], "gene_symbol": "DNM2", "hgnc_symbol": "DNM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10828755-10944164", "ensembl_id": "ENSG00000079805" } }, "GRch38": { "90": { "location": "19:10718079-10833488", "ensembl_id": "ENSG00000079805" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "DNM2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cerebral palsy MONDO:0006497" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:2978", "gene_name": "DNA methyltransferase 3 alpha", "omim_gene": [ "602769" ], "alias_name": null, "gene_symbol": "DNMT3A", "hgnc_symbol": "DNMT3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:25455845-25565459", "ensembl_id": "ENSG00000119772" } }, "GRch38": { "90": { "location": "2:25227855-25342590", "ensembl_id": "ENSG00000119772" } } }, "hgnc_date_symbol_changed": "1998-07-15" }, "entity_type": "gene", "entity_name": "DNMT3A", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Heyn-Sproul-Jackson syndrome, MIM#618724", "Tatton-Brown-Rahman syndrome, MIM#615879" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "PSD-95", "PSD95", "SAP90", "SAP-90" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2903", "gene_name": "discs large MAGUK scaffold protein 4", "omim_gene": [ "602887" ], "alias_name": null, "gene_symbol": "DLG4", "hgnc_symbol": "DLG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7093209-7123021", "ensembl_id": "ENSG00000132535" } }, "GRch38": { "90": { "location": "17:7189890-7219702", "ensembl_id": "ENSG00000132535" } } }, "hgnc_date_symbol_changed": "1995-11-07" }, "entity_type": "gene", "entity_name": "DLG4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 62, MIM#618793" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "Eu-HMTase1", "FLJ12879", "KIAA1876", "bA188C12.1", "KMT1D", "FLJ40292" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24650", "gene_name": "euchromatic histone lysine methyltransferase 1", "omim_gene": [ "607001" ], "alias_name": null, "gene_symbol": "EHMT1", "hgnc_symbol": "EHMT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:140513444-140764468", "ensembl_id": "ENSG00000181090" } }, "GRch38": { "90": { "location": "9:137618963-137870016", "ensembl_id": "ENSG00000181090" } } }, "hgnc_date_symbol_changed": "2004-06-01" }, "entity_type": "gene", "entity_name": "EHMT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Kleefstra syndrome, MIM#610253" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:13723", "gene_name": "CCCTC-binding factor", "omim_gene": [ "604167" ], "alias_name": [ "11 zinc finger transcriptional repressor" ], "gene_symbol": "CTCF", "hgnc_symbol": "CTCF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67596310-67673086", "ensembl_id": "ENSG00000102974" } }, "GRch38": { "90": { "location": "16:67562407-67639183", "ensembl_id": "ENSG00000102974" } } }, "hgnc_date_symbol_changed": "2000-10-20" }, "entity_type": "gene", "entity_name": "CTCF", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 21, MIM#615502" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:2553", "gene_name": "cullin 3", "omim_gene": [ "603136" ], "alias_name": null, "gene_symbol": "CUL3", "hgnc_symbol": "CUL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:225334867-225450110", "ensembl_id": "ENSG00000036257" } }, "GRch38": { "90": { "location": "2:224470150-224585397", "ensembl_id": "ENSG00000036257" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "CUL3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "IGDCC1", "NTN1R1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2701", "gene_name": "DCC netrin 1 receptor", "omim_gene": [ "120470" ], "alias_name": [ "immunoglobulin superfamily, DCC subclass, member 1" ], "gene_symbol": "DCC", "hgnc_symbol": "DCC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:49866542-51057784", "ensembl_id": "ENSG00000187323" } }, "GRch38": { "90": { "location": "18:52340172-53535903", "ensembl_id": "ENSG00000187323" } } }, "hgnc_date_symbol_changed": "1990-05-25" }, "entity_type": "gene", "entity_name": "DCC", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "EZH1", "ENX-1", "KMT6", "KMT6A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3527", "gene_name": "enhancer of zeste 2 polycomb repressive complex 2 subunit", "omim_gene": [ "601573" ], "alias_name": null, "gene_symbol": "EZH2", "hgnc_symbol": "EZH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:148504475-148581413", "ensembl_id": "ENSG00000106462" } }, "GRch38": { "90": { "location": "7:148807383-148884321", "ensembl_id": "ENSG00000106462" } } }, "hgnc_date_symbol_changed": "1995-12-21" }, "entity_type": "gene", "entity_name": "EZH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Weaver syndrome, MIM#277590" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Myopathy, isolated mitochondrial, MIM#616209" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "Mi-2b", "Mi2-BETA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1919", "gene_name": "chromodomain helicase DNA binding protein 4", "omim_gene": [ "603277" ], "alias_name": null, "gene_symbol": "CHD4", "hgnc_symbol": "CHD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6679249-6716642", "ensembl_id": "ENSG00000111642" } }, "GRch38": { "90": { "location": "12:6570083-6607476", "ensembl_id": "ENSG00000111642" } } }, "hgnc_date_symbol_changed": "1998-03-20" }, "entity_type": "gene", "entity_name": "CHD4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Sifrim-Hitz-Weiss syndrome, MIM#617159" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:1463", "gene_name": "calcium/calmodulin dependent protein kinase II gamma", "omim_gene": [ "602123" ], "alias_name": null, "gene_symbol": "CAMK2G", "hgnc_symbol": "CAMK2G", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:75572259-75634343", "ensembl_id": "ENSG00000148660" } }, "GRch38": { "90": { "location": "10:73812501-73874591", "ensembl_id": "ENSG00000148660" } } }, "hgnc_date_symbol_changed": "1993-11-24" }, "entity_type": "gene", "entity_name": "CAMK2G", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 59, MIM#618522" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "KIAA1416", "FLJ20357", "FLJ20361" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20626", "gene_name": "chromodomain helicase DNA binding protein 7", "omim_gene": [ "608892" ], "alias_name": null, "gene_symbol": "CHD7", "hgnc_symbol": "CHD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:61591337-61779465", "ensembl_id": "ENSG00000171316" } }, "GRch38": { "90": { "location": "8:60678778-60868028", "ensembl_id": "ENSG00000171316" } } }, "hgnc_date_symbol_changed": "2004-06-22" }, "entity_type": "gene", "entity_name": "CHD7", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "CHARGE syndrome, MIM#608892" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "CLC-7", "OPTA2", "CLC7", "ClC-7", "PPP1R63" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2025", "gene_name": "chloride voltage-gated channel 7", "omim_gene": [ "602727" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 63" ], "gene_symbol": "CLCN7", "hgnc_symbol": "CLCN7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:1494935-1525581", "ensembl_id": "ENSG00000103249" } }, "GRch38": { "90": { "location": "16:1444934-1475580", "ensembl_id": "ENSG00000103249" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "CLCN7", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780", "Osteopetrosis, autosomal recessive 4", "OPTB4, MIM#602727" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "H2", "H3", "H4", "H5", "CEK", "FLG", "BFGFR", "N-SAM", "CD331" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3688", "gene_name": "fibroblast growth factor receptor 1", "omim_gene": [ "136350" ], "alias_name": [ "Pfeiffer syndrome" ], "gene_symbol": "FGFR1", "hgnc_symbol": "FGFR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:38268656-38326352", "ensembl_id": "ENSG00000077782" } }, "GRch38": { "90": { "location": "8:38411138-38468834", "ensembl_id": "ENSG00000077782" } } }, "hgnc_date_symbol_changed": "1992-02-25" }, "entity_type": "gene", "entity_name": "FGFR1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hartsfield syndrome, MIM#615465" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "DOM", "WS4", "WS2E" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11190", "gene_name": "SRY-box 10", "omim_gene": [ "602229" ], "alias_name": [ "dominant megacolon, mouse, human homolog of" ], "gene_symbol": "SOX10", "hgnc_symbol": "SOX10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:38366693-38383429", "ensembl_id": "ENSG00000100146" } }, "GRch38": { "90": { "location": "22:37970686-37987422", "ensembl_id": "ENSG00000100146" } } }, "hgnc_date_symbol_changed": "1998-01-22" }, "entity_type": "gene", "entity_name": "SOX10", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "PCWH syndrome, MIM#609136", "Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "TLS", "FUS1", "hnRNP-P2", "HNRNPP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4010", "gene_name": "FUS RNA binding protein", "omim_gene": [ "137070" ], "alias_name": [ "heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma" ], "gene_symbol": "FUS", "hgnc_symbol": "FUS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:31191431-31203127", "ensembl_id": "ENSG00000089280" } }, "GRch38": { "90": { "location": "16:31180110-31194871", "ensembl_id": "ENSG00000089280" } } }, "hgnc_date_symbol_changed": "1992-11-26" }, "entity_type": "gene", "entity_name": "FUS", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Essential tremor, MIM#614782" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "DKFZP564D166", "FLJ10215", "FLJ11824", "KIAA1148", "KIAA1636", "rols", "ROLSA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30212", "gene_name": "tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2", "omim_gene": [ "615047" ], "alias_name": [ "rolling pebbles homolog B (Drosophila)" ], "gene_symbol": "TANC2", "hgnc_symbol": "TANC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:61086917-61505060", "ensembl_id": "ENSG00000170921" } }, "GRch38": { "90": { "location": "17:63009556-63427699", "ensembl_id": "ENSG00000170921" } } }, "hgnc_date_symbol_changed": "2005-11-18" }, "entity_type": "gene", "entity_name": "TANC2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38693247" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#618906" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "U7.1" ], "biotype": "snRNA", "hgnc_id": "HGNC:34033", "gene_name": "RNA, U7 small nuclear 1", "omim_gene": null, "alias_name": [ "RNA, small nuclear U7.1" ], "gene_symbol": "RNU7-1", "hgnc_symbol": "RNU7-1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:7052979-7053041", "ensembl_id": "ENSG00000238923" } }, "GRch38": { "90": { "location": "12:6943816-6943878", "ensembl_id": "ENSG00000238923" } } }, "hgnc_date_symbol_changed": "2010-09-14" }, "entity_type": "gene", "entity_name": "RNU7-1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Aicardi-Goutières syndrome 9, MIM#619487" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "non-coding gene" ], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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-92" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19693", "gene_name": "coenzyme Q4", "omim_gene": [ "612898" ], "alias_name": null, "gene_symbol": "COQ4", "hgnc_symbol": "COQ4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:131084815-131096351", "ensembl_id": "ENSG00000167113" } }, "GRch38": { "90": { "location": "9:128322536-128334072", "ensembl_id": "ENSG00000167113" } } }, "hgnc_date_symbol_changed": "2003-01-10" }, "entity_type": "gene", "entity_name": "COQ4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Coenzyme Q10 deficiency, primary, MIM#616276", "Spastic ataxia 10, autosomal recessive, MIM#620666" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ20561", "HsT18960", "nclf" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2077", "gene_name": "CLN6, transmembrane ER protein", "omim_gene": [ "606725" ], "alias_name": null, "gene_symbol": "CLN6", "hgnc_symbol": "CLN6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:68499330-68549549", "ensembl_id": "ENSG00000128973" } }, "GRch38": { "90": { "location": "15:68206992-68257211", "ensembl_id": "ENSG00000128973" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "CLN6", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neuronal Ceroid Lipofuscinosis 6, MIM#601780" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "NIMP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18647", "gene_name": "reticulon 4 interacting protein 1", "omim_gene": [ "610502" ], "alias_name": null, "gene_symbol": "RTN4IP1", "hgnc_symbol": "RTN4IP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:107018903-107077373", "ensembl_id": "ENSG00000130347" } }, "GRch38": { "90": { "location": "6:106571971-106629487", "ensembl_id": "ENSG00000130347" } } }, "hgnc_date_symbol_changed": "2002-05-23" }, "entity_type": "gene", "entity_name": "RTN4IP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures, MIM#616732" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "K2p9.1", "TASK3", "TASK-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6283", "gene_name": "potassium two pore domain channel subfamily K member 9", "omim_gene": [ "605874" ], "alias_name": null, "gene_symbol": "KCNK9", "hgnc_symbol": "KCNK9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:140613081-140715299", "ensembl_id": "ENSG00000169427" } }, "GRch38": { "90": { "location": "8:139600838-139703056", "ensembl_id": "ENSG00000169427" } } }, "hgnc_date_symbol_changed": "2000-05-26" }, "entity_type": "gene", "entity_name": "KCNK9", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "SEN54", "SEN54L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27561", "gene_name": "tRNA splicing endonuclease subunit 54", "omim_gene": [ "608755" ], "alias_name": null, "gene_symbol": "TSEN54", "hgnc_symbol": "TSEN54", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73512141-73520820", "ensembl_id": "ENSG00000182173" } }, "GRch38": { "90": { "location": "17:75516060-75524739", "ensembl_id": "ENSG00000182173" } } }, "hgnc_date_symbol_changed": "2005-03-11" }, "entity_type": "gene", "entity_name": "TSEN54", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Pontocerebellar hypoplasia type 2, MIM#277470" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ10587", "FLJ23205" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25551", "gene_name": "SMG8, nonsense mediated mRNA decay factor", "omim_gene": [ "613175" ], "alias_name": null, "gene_symbol": "SMG8", "hgnc_symbol": "SMG8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:57286761-57292608", "ensembl_id": "ENSG00000167447" } }, "GRch38": { "90": { "location": "17:59209400-59215247", "ensembl_id": "ENSG00000167447" } } }, "hgnc_date_symbol_changed": "2011-06-21" }, "entity_type": "gene", "entity_name": "SMG8", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Alzahrani-Kuwahara syndrome, MIM#619268" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:11581", "gene_name": "tubulin folding cofactor D", "omim_gene": [ "604649" ], "alias_name": null, "gene_symbol": "TBCD", "hgnc_symbol": "TBCD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:80709940-80900724", "ensembl_id": "ENSG00000141556" } }, "GRch38": { "90": { "location": "17:82752064-82945922", "ensembl_id": "ENSG00000141556" } } }, "hgnc_date_symbol_changed": "1998-07-31" }, "entity_type": "gene", "entity_name": "TBCD", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum MIM#617193" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ20061", "IPT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20286", "gene_name": "tRNA isopentenyltransferase 1", "omim_gene": null, "alias_name": null, "gene_symbol": "TRIT1", "hgnc_symbol": "TRIT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:40306723-40349183", "ensembl_id": "ENSG00000043514" } }, "GRch38": { "90": { "location": "1:39841022-39883511", "ensembl_id": "ENSG00000043514" } } }, "hgnc_date_symbol_changed": "2004-01-15" }, "entity_type": "gene", "entity_name": "TRIT1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Combined oxidative phosphorylation deficiency 35, MIM#617873" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "BRAF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1097", "gene_name": "B-Raf proto-oncogene, serine/threonine kinase", "omim_gene": [ "164757" ], "alias_name": null, "gene_symbol": "BRAF", "hgnc_symbol": "BRAF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:140419127-140624564", "ensembl_id": "ENSG00000157764" } }, "GRch38": { "90": { "location": "7:140719327-140924764", "ensembl_id": "ENSG00000157764" } } }, "hgnc_date_symbol_changed": "1991-07-16" }, "entity_type": "gene", "entity_name": "BRAF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Cardiofaciocutaneous syndrome, MIM#115150" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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:6325", "gene_name": "kinesin family member 5C", "omim_gene": [ "604593" ], "alias_name": null, "gene_symbol": "KIF5C", "hgnc_symbol": "KIF5C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:149632819-149883273", "ensembl_id": "ENSG00000168280" } }, "GRch38": { "90": { "location": "2:148875250-149026759", "ensembl_id": "ENSG00000168280" } } }, "hgnc_date_symbol_changed": "1998-08-24" }, "entity_type": "gene", "entity_name": "KIF5C", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Cortical dysplasia, complex, with other brain malformations 2 MIM#615282" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "EPD", "PDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:877", "gene_name": "aldehyde dehydrogenase 7 family member A1", "omim_gene": [ "107323" ], "alias_name": [ "antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase" ], "gene_symbol": "ALDH7A1", "hgnc_symbol": "ALDH7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:125877533-125931110", "ensembl_id": "ENSG00000164904" } }, "GRch38": { "90": { "location": "5:126531200-126595418", "ensembl_id": "ENSG00000164904" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "ALDH7A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Epilepsy, pyridoxine-dependent, MIM#266100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "ARHGEF23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12303", "gene_name": "trio Rho guanine nucleotide exchange factor", "omim_gene": [ "601893" ], "alias_name": null, "gene_symbol": "TRIO", "hgnc_symbol": "TRIO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:14143811-14532235", "ensembl_id": "ENSG00000038382" } }, "GRch38": { "90": { "location": "5:14143702-14532128", "ensembl_id": "ENSG00000038382" } } }, "hgnc_date_symbol_changed": "1997-01-29" }, "entity_type": "gene", "entity_name": "TRIO", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ21404", "FSA", "KIAA1371", "Tweek" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26953", "gene_name": "KIAA1109", "omim_gene": [ "611565" ], "alias_name": [ "fragile site-associated" ], "gene_symbol": "KIAA1109", "hgnc_symbol": "KIAA1109", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:123073488-123283913", "ensembl_id": "ENSG00000138688" } }, "GRch38": { "90": { "location": "4:122152333-122362758", "ensembl_id": "ENSG00000138688" } } }, "hgnc_date_symbol_changed": "2004-07-29" }, "entity_type": "gene", "entity_name": "KIAA1109", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Alkuraya-Kucinskas syndrome, MIM#617822" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "PI3K" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8975", "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "omim_gene": [ "171834" ], "alias_name": null, "gene_symbol": "PIK3CA", "hgnc_symbol": "PIK3CA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:178865902-178957881", "ensembl_id": "ENSG00000121879" } }, "GRch38": { "90": { "location": "3:179148114-179240093", "ensembl_id": "ENSG00000121879" } } }, "hgnc_date_symbol_changed": "1994-07-15" }, "entity_type": "gene", "entity_name": "PIK3CA", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "MGC16169", "HSPC302" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28261", "gene_name": "TBC1 domain containing kinase", "omim_gene": [ "616899" ], "alias_name": null, "gene_symbol": "TBCK", "hgnc_symbol": "TBCK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:106962756-107242652", "ensembl_id": "ENSG00000145348" } }, "GRch38": { "90": { "location": "4:106041599-106321495", "ensembl_id": "ENSG00000145348" } } }, "hgnc_date_symbol_changed": "2009-08-26" }, "entity_type": "gene", "entity_name": "TBCK", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "IRP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6115", "gene_name": "iron responsive element binding protein 2", "omim_gene": [ "147582" ], "alias_name": null, "gene_symbol": "IREB2", "hgnc_symbol": "IREB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:78729773-78793798", "ensembl_id": "ENSG00000136381" } }, "GRch38": { "90": { "location": "15:78437431-78501456", "ensembl_id": "ENSG00000136381" } } }, "hgnc_date_symbol_changed": "1991-02-20" }, "entity_type": "gene", "entity_name": "IREB2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "PUMH1", "KIAA0099" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14957", "gene_name": "pumilio RNA binding family member 1", "omim_gene": [ "607204" ], "alias_name": null, "gene_symbol": "PUM1", "hgnc_symbol": "PUM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:31404353-31538838", "ensembl_id": "ENSG00000134644" } }, "GRch38": { "90": { "location": "1:30931506-31065991", "ensembl_id": "ENSG00000134644" } } }, "hgnc_date_symbol_changed": "2001-03-27" }, "entity_type": "gene", "entity_name": "PUM1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719", "Spinocerebellar ataxia 47, MIM#617931" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "KIAA1890", "PPP1R24" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14026", "gene_name": "CUB and Sushi multiple domains 1", "omim_gene": [ "608397" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 24" ], "gene_symbol": "CSMD1", "hgnc_symbol": "CSMD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:2792875-4852494", "ensembl_id": "ENSG00000183117" } }, "GRch38": { "90": { "location": "8:2935353-4994972", "ensembl_id": "ENSG00000183117" } } }, "hgnc_date_symbol_changed": "2000-12-21" }, "entity_type": "gene", "entity_name": "CSMD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38816421" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "complex neurodevelopmental disorder MONDO:0100038" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FRAG1", "CWH43-N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17893", "gene_name": "post-GPI attachment to proteins 2", "omim_gene": [ "615187" ], "alias_name": [ "FGF receptor activating protein 1", "cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)" ], "gene_symbol": "PGAP2", "hgnc_symbol": "PGAP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:3818954-3847601", "ensembl_id": "ENSG00000148985" } }, "GRch38": { "90": { "location": "11:3797724-3826371", "ensembl_id": "ENSG00000148985" } } }, "hgnc_date_symbol_changed": "2009-06-18" }, "entity_type": "gene", "entity_name": "PGAP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "BS69" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16966", "gene_name": "zinc finger MYND-type containing 11", "omim_gene": [ "608668" ], "alias_name": null, "gene_symbol": "ZMYND11", "hgnc_symbol": "ZMYND11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:180405-300577", "ensembl_id": "ENSG00000015171" } }, "GRch38": { "90": { "location": "10:134465-254637", "ensembl_id": "ENSG00000015171" } } }, "hgnc_date_symbol_changed": "2004-04-20" }, "entity_type": "gene", "entity_name": "ZMYND11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39213953" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Intellectual developmental disorder 30, MIM#616083" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "KIAA1616", "LTRPC3", "GON-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17992", "gene_name": "transient receptor potential cation channel subfamily M member 3", "omim_gene": [ "608961" ], "alias_name": [ "melastatin 2" ], "gene_symbol": "TRPM3", "hgnc_symbol": "TRPM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:73143979-74061820", "ensembl_id": "ENSG00000083067" } }, "GRch38": { "90": { "location": "9:70529063-71446904", "ensembl_id": "ENSG00000083067" } } }, "hgnc_date_symbol_changed": "2002-01-11" }, "entity_type": "gene", "entity_name": "TRPM3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37684057" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), MIM#620224)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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": [ "FLJ45472" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4235", "gene_name": "glial fibrillary acidic protein", "omim_gene": [ "137780" ], "alias_name": [ "intermediate filament protein" ], "gene_symbol": "GFAP", "hgnc_symbol": "GFAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42982376-42994305", "ensembl_id": "ENSG00000131095" } }, "GRch38": { "90": { "location": "17:44903161-44916937", "ensembl_id": "ENSG00000131095" } } }, "hgnc_date_symbol_changed": "1989-12-07" }, "entity_type": "gene", "entity_name": "GFAP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38843839" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Alexander disease, MIM#203450" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 73, "hash_id": null, "name": "Cerebral Palsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.", "status": "public", "version": "1.410", "version_created": "2026-02-17T16:35:59.013988+11:00", "relevant_disorders": [ "Cerebral palsy HP:0100021" ], "stats": { "number_of_genes": 364, "number_of_strs": 0, "number_of_regions": 1 }, "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 } ] }