{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=59","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=57","results":[{"gene_data":{"alias":["MSH-R"],"biotype":"protein_coding","hgnc_id":"HGNC:6929","gene_name":"melanocortin 1 receptor","omim_gene":["155555"],"alias_name":["alpha melanocyte stimulating hormone receptor"],"gene_symbol":"MC1R","hgnc_symbol":"MC1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89978527-89987385","ensembl_id":"ENSG00000258839"}},"GRch38":{"90":{"location":"16:89912119-89920977","ensembl_id":"ENSG00000258839"}}},"hgnc_date_symbol_changed":"1993-07-27"},"entity_type":"gene","entity_name":"MC1R","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["12876664"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["{Albinism, oculocutaneous, type II, modifier of}, MIM# 203200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":37,"hash_id":null,"name":"Ocular and Oculocutaneous Albinism","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.16","version_created":"2026-03-27T19:38:01.497264+11:00","relevant_disorders":["Albinism HP:0001022; Ocular albinism","HP:0001107"],"stats":{"number_of_genes":24,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2212","gene_name":"collagen type VI alpha 2 chain","omim_gene":["120240"],"alias_name":null,"gene_symbol":"COL6A2","hgnc_symbol":"COL6A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:47518011-47552763","ensembl_id":"ENSG00000142173"}},"GRch38":{"90":{"location":"21:46098097-46132849","ensembl_id":"ENSG00000142173"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301676"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bethlem myopathy 1 MIM#158810","Ullrich congenital muscular dystrophy 1 MIM#254090"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). 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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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DYT18","DYT9"],"biotype":"protein_coding","hgnc_id":"HGNC:11005","gene_name":"solute carrier family 2 member 1","omim_gene":["138140"],"alias_name":null,"gene_symbol":"SLC2A1","hgnc_symbol":"SLC2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43391052-43424530","ensembl_id":"ENSG00000117394"}},"GRch38":{"90":{"location":"1:42925375-42959173","ensembl_id":"ENSG00000117394"}}},"hgnc_date_symbol_changed":"1994-11-18"},"entity_type":"gene","entity_name":"SLC2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32913944"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["GLUT1-deficiency syndrome, MONDO:0000188","Dystonia 9 601042","GLUT1 deficiency syndrome 1, infantile onset, severe 606777","GLUT1 deficiency syndrome 2, childhood onset 612126","Stomatin-deficient cryohydrocytosis with neurologic defects 608885"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":74,"hash_id":null,"name":"Brain Channelopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nBrain channelopathies typically cause episodes of neurological dysfunction including a combination of ataxia, dystonia, abnormal extra movements, leg stiffness, weakness, headache and nausea.  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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASHI","CI-ASHI"],"biotype":"protein_coding","hgnc_id":"HGNC:7703","gene_name":"NADH:ubiquinone oxidoreductase subunit B8","omim_gene":["602140"],"alias_name":["complex I ASHI subunit"],"gene_symbol":"NDUFB8","hgnc_symbol":"NDUFB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102267203-102289757","ensembl_id":"ENSG00000166136"}},"GRch38":{"90":{"location":"10:100523740-100530000","ensembl_id":"ENSG00000166136"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"NDUFB8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29429571"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CALDAG-GEFI"],"biotype":"protein_coding","hgnc_id":"HGNC:9879","gene_name":"RAS guanyl releasing protein 2","omim_gene":["605577"],"alias_name":["calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I"],"gene_symbol":"RASGRP2","hgnc_symbol":"RASGRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64494383-64512928","ensembl_id":"ENSG00000068831"}},"GRch38":{"90":{"location":"11:64726911-64745456","ensembl_id":"ENSG00000068831"}}},"hgnc_date_symbol_changed":"1999-07-21"},"entity_type":"gene","entity_name":"RASGRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28762304","27663674","28637664","27235135"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bleeding disorder, platelet-type, 18 (MIM#615888)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30368457","12754708","25754450","32928894","29543227","40120363"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208","Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317","Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome","Febrile seizures","Arthrogryposis multiplex congenita"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD62","PSEL","PADGEM","GMP140","CD62P"],"biotype":"protein_coding","hgnc_id":"HGNC:10721","gene_name":"selectin P","omim_gene":["173610"],"alias_name":["antigen CD62","granule membrane protein 140kDa"],"gene_symbol":"SELP","hgnc_symbol":"SELP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:169558087-169599431","ensembl_id":"ENSG00000174175"}},"GRch38":{"90":{"location":"1:169588849-169630193","ensembl_id":"ENSG00000174175"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"SELP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cctb"],"biotype":"protein_coding","hgnc_id":"HGNC:1615","gene_name":"chaperonin containing TCP1 subunit 2","omim_gene":["605139"],"alias_name":null,"gene_symbol":"CCT2","hgnc_symbol":"CCT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:69979114-69995350","ensembl_id":"ENSG00000166226"}},"GRch38":{"90":{"location":"12:69585334-69601570","ensembl_id":"ENSG00000166226"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"CCT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27645772","29450543"],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":["Leber's congenital amaurosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1724","SELI","SEPI"],"biotype":"protein_coding","hgnc_id":"HGNC:29361","gene_name":"selenoprotein I","omim_gene":["607915"],"alias_name":null,"gene_symbol":"SELENOI","hgnc_symbol":"SELENOI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26531415-26618759","ensembl_id":"ENSG00000138018"}},"GRch38":{"90":{"location":"2:26308547-26395891","ensembl_id":"ENSG00000138018"}}},"hgnc_date_symbol_changed":"2016-09-21"},"entity_type":"gene","entity_name":"SELENOI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39806532","29500230","28052917","33454747"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 81, autosomal recessive, MIM# 618768"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CRN","CLF","SYF3","Clf1"],"biotype":"protein_coding","hgnc_id":"HGNC:15762","gene_name":"crooked neck pre-mRNA splicing factor 1","omim_gene":["610952"],"alias_name":["SYF3 pre-mRNA-splicing factor"],"gene_symbol":"CRNKL1","hgnc_symbol":"CRNKL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:20015012-20036690","ensembl_id":"ENSG00000101343"}},"GRch38":{"90":{"location":"20:20034368-20056046","ensembl_id":"ENSG00000101343"}}},"hgnc_date_symbol_changed":"2001-05-31"},"entity_type":"gene","entity_name":"CRNKL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40857589"],"evidence":["Expert Review Green","Other"],"phenotypes":["Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC14993","MGC23778","PRO1992","dJ382I10.6","DALRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:21406","gene_name":"arginyl-tRNA synthetase 2, mitochondrial","omim_gene":["611524"],"alias_name":["arginine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"RARS2","hgnc_symbol":"RARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:88224096-88299721","ensembl_id":"ENSG00000146282"}},"GRch38":{"90":{"location":"6:87514378-87590003","ensembl_id":"ENSG00000146282"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"RARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17847012","20635367","25809939"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia, type 6, MIM# 611523"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7448","gene_name":"myotubularin 1","omim_gene":["300415"],"alias_name":null,"gene_symbol":"MTM1","hgnc_symbol":"MTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:149737069-149841795","ensembl_id":"ENSG00000171100"}},"GRch38":{"90":{"location":"X:150568619-150673322","ensembl_id":"ENSG00000171100"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MTM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30232666","38982518","10790201"],"evidence":["Expert Review Green","Literature","Expert Review Green","Expert list"],"phenotypes":["X-linked myotubular myopathy MONDO:0010683"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16247010","15814878"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Dyskeratosis congenita, MIM# 613989","Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hPot1","DKFZp586D211"],"biotype":"protein_coding","hgnc_id":"HGNC:17284","gene_name":"protection of telomeres 1","omim_gene":["606478"],"alias_name":null,"gene_symbol":"POT1","hgnc_symbol":"POT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:124462440-124570037","ensembl_id":"ENSG00000128513"}},"GRch38":{"90":{"location":"7:124822386-124929983","ensembl_id":"ENSG00000128513"}}},"hgnc_date_symbol_changed":"2004-08-20"},"entity_type":"gene","entity_name":"POT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35420632","30995915"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Telomere syndrome, MONDO:0100137, POT1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Expert list","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia type 2A, MIM# 277470"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABBA-1","LOC92154","ABBA"],"biotype":"protein_coding","hgnc_id":"HGNC:25094","gene_name":"MTSS1L, I-BAR domain containing","omim_gene":["616951"],"alias_name":["actin-bundling protein with BAIAP2 homology"],"gene_symbol":"MTSS1L","hgnc_symbol":"MTSS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70695107-70719969","ensembl_id":"ENSG00000132613"}},"GRch38":{"90":{"location":"16:70661204-70686066","ensembl_id":"ENSG00000132613"}}},"hgnc_date_symbol_changed":"2008-12-05"},"entity_type":"gene","entity_name":"MTSS1L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36067766"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CPAMD3","C4F","CO4","C4B1","C4B3","CH"],"biotype":"protein_coding","hgnc_id":"HGNC:1324","gene_name":"complement C4B (Chido blood group)","omim_gene":["120820"],"alias_name":null,"gene_symbol":"C4B","hgnc_symbol":"C4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31982539-32003195","ensembl_id":"ENSG00000224389"}},"GRch38":{"90":{"location":"6:32014762-32035418","ensembl_id":"ENSG00000224389"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C4B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["34764957","12626442","22387014","17503323","32048120"],"evidence":["Expert Review Amber","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["susceptibility to autoimmune disease","C4B deficiency MIM#614379"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRAP","HPAP"],"biotype":"protein_coding","hgnc_id":"HGNC:124","gene_name":"acid phosphatase 5, tartrate resistant","omim_gene":["171640"],"alias_name":["tartrate-resistant acid phosphatase","human purple acid phosphatase"],"gene_symbol":"ACP5","hgnc_symbol":"ACP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11685475-11689823","ensembl_id":"ENSG00000102575"}},"GRch38":{"90":{"location":"19:11574660-11579008","ensembl_id":"ENSG00000102575"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"ACP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Expert list","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:652","gene_name":"ADP ribosylation factor 1","omim_gene":["103180"],"alias_name":null,"gene_symbol":"ARF1","hgnc_symbol":"ARF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:228270361-228286912","ensembl_id":"ENSG00000143761"}},"GRch38":{"90":{"location":"1:228082660-228099212","ensembl_id":"ENSG00000143761"}}},"hgnc_date_symbol_changed":"1992-07-09"},"entity_type":"gene","entity_name":"ARF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37914730"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation HP:0033428"],"stats":{"number_of_genes":108,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17632512"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Donnai-Barrow syndrome, MIM#222448"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TR-AP","PAF400","Tra1"],"biotype":"protein_coding","hgnc_id":"HGNC:12347","gene_name":"transformation/transcription domain associated protein","omim_gene":["603015"],"alias_name":null,"gene_symbol":"TRRAP","hgnc_symbol":"TRRAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:98475556-98610866","ensembl_id":"ENSG00000196367"}},"GRch38":{"90":{"location":"7:98877933-99013243","ensembl_id":"ENSG00000196367"}}},"hgnc_date_symbol_changed":"1998-10-06"},"entity_type":"gene","entity_name":"TRRAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 30827496"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental delay with or without dysmorphic facies and autism","OMIM #618454"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1724","SELI","SEPI"],"biotype":"protein_coding","hgnc_id":"HGNC:29361","gene_name":"selenoprotein I","omim_gene":["607915"],"alias_name":null,"gene_symbol":"SELENOI","hgnc_symbol":"SELENOI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26531415-26618759","ensembl_id":"ENSG00000138018"}},"GRch38":{"90":{"location":"2:26308547-26395891","ensembl_id":"ENSG00000138018"}}},"hgnc_date_symbol_changed":"2016-09-21"},"entity_type":"gene","entity_name":"SELENOI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28052917","39806532","29500230","33454747"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spastic paraplegia 81, autosomal recessive, MIM# 618768"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ236A3.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21062","gene_name":"phenylalanyl-tRNA synthetase 2, mitochondrial","omim_gene":["611592"],"alias_name":["phenylalanine tRNA ligase 2, mitochondrial"],"gene_symbol":"FARS2","hgnc_symbol":"FARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:5261277-5771813","ensembl_id":"ENSG00000145982"}},"GRch38":{"90":{"location":"6:5261044-5771580","ensembl_id":"ENSG00000145982"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"FARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Combined oxidative phosphorylation deficiency 14, 614946"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ33718","FLJ39137","Dok-7"],"biotype":"protein_coding","hgnc_id":"HGNC:26594","gene_name":"docking protein 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VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0366","ADAMTS-4"],"biotype":"protein_coding","hgnc_id":"HGNC:219","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 3","omim_gene":["605011"],"alias_name":null,"gene_symbol":"ADAMTS3","hgnc_symbol":"ADAMTS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:73146686-73434516","ensembl_id":"ENSG00000156140"}},"GRch38":{"90":{"location":"4:72280969-72569386","ensembl_id":"ENSG00000156140"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"ADAMTS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28985353","30450763"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hennekam lymphangiectasia-lymphedema syndrome 3 (618154)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["botv","REGR"],"biotype":"protein_coding","hgnc_id":"HGNC:3518","gene_name":"exostosin like glycosyltransferase 3","omim_gene":["605744"],"alias_name":["REG receptor","glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"],"gene_symbol":"EXTL3","hgnc_symbol":"EXTL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:28457986-28613116","ensembl_id":"ENSG00000012232"}},"GRch38":{"90":{"location":"8:28600469-28755599","ensembl_id":"ENSG00000012232"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"EXTL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MTPB"],"biotype":"protein_coding","hgnc_id":"HGNC:4803","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta","omim_gene":["143450"],"alias_name":["mitochondrial trifunctional protein, beta subunit"],"gene_symbol":"HADHB","hgnc_symbol":"HADHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26466038-26513336","ensembl_id":"ENSG00000138029"}},"GRch38":{"90":{"location":"2:26243170-26290468","ensembl_id":"ENSG00000138029"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Trifunctional protein deficiency, 609015 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RECQL2","RECQ3"],"biotype":"protein_coding","hgnc_id":"HGNC:12791","gene_name":"Werner syndrome RecQ like helicase","omim_gene":["604611"],"alias_name":null,"gene_symbol":"WRN","hgnc_symbol":"WRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:30891317-31031285","ensembl_id":"ENSG00000165392"}},"GRch38":{"90":{"location":"8:31033801-31173769","ensembl_id":"ENSG00000165392"}}},"hgnc_date_symbol_changed":"1991-08-21"},"entity_type":"gene","entity_name":"WRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Werner syndrome, 277700 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. 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These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4816","gene_name":"histidyl-tRNA synthetase","omim_gene":["142810"],"alias_name":["histidine tRNA ligase 1, cytoplasmic"],"gene_symbol":"HARS","hgnc_symbol":"HARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140052758-140071609","ensembl_id":"ENSG00000170445"}},"GRch38":{"90":{"location":"5:140673173-140692024","ensembl_id":"ENSG00000170445"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Usher syndrome type 3B"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GNT-II"],"biotype":"protein_coding","hgnc_id":"HGNC:7045","gene_name":"mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase","omim_gene":["602616"],"alias_name":null,"gene_symbol":"MGAT2","hgnc_symbol":"MGAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50087489-50090198","ensembl_id":"ENSG00000168282"}},"GRch38":{"90":{"location":"14:49620795-49623481","ensembl_id":"ENSG00000168282"}}},"hgnc_date_symbol_changed":"1993-02-16"},"entity_type":"gene","entity_name":"MGAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8808595","11228641","22105986","33044030","31420886"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Congenital disorder of glycosylation, type IIa, MIM# 212066","MGAT2-CDG, MONDO:0008908"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTI","CAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8950","gene_name":"serpin family B member 6","omim_gene":["173321"],"alias_name":["cytoplasmic antiproteinase"],"gene_symbol":"SERPINB6","hgnc_symbol":"SERPINB6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:2948393-2972090","ensembl_id":"ENSG00000124570"}},"GRch38":{"90":{"location":"6:2948159-2972165","ensembl_id":"ENSG00000124570"}}},"hgnc_date_symbol_changed":"1994-07-20"},"entity_type":"gene","entity_name":"SERPINB6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Deafness, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10888","gene_name":"SIX homeobox 2","omim_gene":["604994"],"alias_name":null,"gene_symbol":"SIX2","hgnc_symbol":"SIX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:45232300-45236569","ensembl_id":"ENSG00000170577"}},"GRch38":{"90":{"location":"2:45005161-45009430","ensembl_id":"ENSG00000170577"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"SIX2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Renal hypodysplasia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TCN3","IF","IFMH","INF"],"biotype":"protein_coding","hgnc_id":"HGNC:4268","gene_name":"gastric intrinsic factor","omim_gene":["609342"],"alias_name":null,"gene_symbol":"GIF","hgnc_symbol":"GIF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:59596741-59612974","ensembl_id":"ENSG00000134812"}},"GRch38":{"90":{"location":"11:59829268-59845501","ensembl_id":"ENSG00000134812"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"GIF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Intrinsic factor deficiency # 261000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp547M236","ZnT-10","ZRC1","ZNT8"],"biotype":"protein_coding","hgnc_id":"HGNC:25355","gene_name":"solute carrier family 30 member 10","omim_gene":["611146"],"alias_name":["zinc transporter 8"],"gene_symbol":"SLC30A10","hgnc_symbol":"SLC30A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:219858769-220131989","ensembl_id":"ENSG00000196660"}},"GRch38":{"90":{"location":"1:219685427-219958647","ensembl_id":"ENSG00000196660"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"SLC30A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22341972","22341971","29193034"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1069","MGC117152","DKFZp434C1372","PLCeta1"],"biotype":"protein_coding","hgnc_id":"HGNC:29185","gene_name":"phospholipase C eta 1","omim_gene":["612835"],"alias_name":["1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1"],"gene_symbol":"PLCH1","hgnc_symbol":"PLCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:155093369-155462856","ensembl_id":"ENSG00000114805"}},"GRch38":{"90":{"location":"3:155375580-155745067","ensembl_id":"ENSG00000114805"}}},"hgnc_date_symbol_changed":"2006-03-16"},"entity_type":"gene","entity_name":"PLCH1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33820834"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Holoprosencephaly 14, MIM# 619895"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BPTP3","SH-PTP2","SHP-2","PTP2C","SHP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9644","gene_name":"protein tyrosine phosphatase, non-receptor type 11","omim_gene":["176876"],"alias_name":null,"gene_symbol":"PTPN11","hgnc_symbol":"PTPN11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112856155-112947717","ensembl_id":"ENSG00000179295"}},"GRch38":{"90":{"location":"12:112418351-112509913","ensembl_id":"ENSG00000179295"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"PTPN11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["16263833","17603483","17497712","12634870","11704759","18678287","15384080","15240615","12529711"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines)","Noonan syndrome 1, MIM#163950"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ESSS","NP17.3","Np15"],"biotype":"protein_coding","hgnc_id":"HGNC:20372","gene_name":"NADH:ubiquinone oxidoreductase subunit B11","omim_gene":["300403"],"alias_name":["complex I NP17.3 subunit"],"gene_symbol":"NDUFB11","hgnc_symbol":"NDUFB11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:47001615-47004903","ensembl_id":"ENSG00000147123"}},"GRch38":{"90":{"location":"X:47142216-47145504","ensembl_id":"ENSG00000147123"}}},"hgnc_date_symbol_changed":"2004-09-02"},"entity_type":"gene","entity_name":"NDUFB11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30423443","25772934","28050600"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 30 MIM#301021","Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HUNKI","MCAP","CAP","HUNK1"],"biotype":"protein_coding","hgnc_id":"HGNC:13575","gene_name":"bromodomain containing 4","omim_gene":["608749"],"alias_name":["chromosome-associated protein"],"gene_symbol":"BRD4","hgnc_symbol":"BRD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:15347647-15443356","ensembl_id":"ENSG00000141867"}},"GRch38":{"90":{"location":"19:15235519-15332545","ensembl_id":"ENSG00000141867"}}},"hgnc_date_symbol_changed":"2000-09-26"},"entity_type":"gene","entity_name":"BRD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29379197","30302754","11997514","34035299"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cornelia de Lange syndrome, MONDO:0016033"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["osterix","OSX"],"biotype":"protein_coding","hgnc_id":"HGNC:17321","gene_name":"Sp7 transcription factor","omim_gene":["606633"],"alias_name":null,"gene_symbol":"SP7","hgnc_symbol":"SP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53720362-53739099","ensembl_id":"ENSG00000170374"}},"GRch38":{"90":{"location":"12:53326575-53345315","ensembl_id":"ENSG00000170374"}}},"hgnc_date_symbol_changed":"2002-09-23"},"entity_type":"gene","entity_name":"SP7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Osteogenesis imperfecta type 12, MONDO:0013460","Osteogenesis imperfecta, type XII, OMIM:613849"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PNK"],"biotype":"protein_coding","hgnc_id":"HGNC:9154","gene_name":"polynucleotide kinase 3'-phosphatase","omim_gene":["605610"],"alias_name":null,"gene_symbol":"PNKP","hgnc_symbol":"PNKP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50364461-50371166","ensembl_id":"ENSG00000039650"}},"GRch38":{"90":{"location":"19:49859882-49878351","ensembl_id":"ENSG00000039650"}}},"hgnc_date_symbol_changed":"1999-12-22"},"entity_type":"gene","entity_name":"PNKP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23224214","20118933"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Microcephaly, seizures, and developmental delay, MIM#613402"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1312"],"biotype":"protein_coding","hgnc_id":"HGNC:13202","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 9","omim_gene":["605421"],"alias_name":null,"gene_symbol":"ADAMTS9","hgnc_symbol":"ADAMTS9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:64501333-64673676","ensembl_id":"ENSG00000163638"}},"GRch38":{"90":{"location":"3:64515654-64688000","ensembl_id":"ENSG00000163638"}}},"hgnc_date_symbol_changed":"2000-11-27"},"entity_type":"gene","entity_name":"ADAMTS9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30609407"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ13094","FLJ34211","PR46b","CILD17"],"biotype":"protein_coding","hgnc_id":"HGNC:32700","gene_name":"coiled-coil domain containing 103","omim_gene":["614677"],"alias_name":null,"gene_symbol":"CCDC103","hgnc_symbol":"CCDC103","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42976510-42982758","ensembl_id":"ENSG00000167131"}},"GRch38":{"90":{"location":"17:44899142-44905390","ensembl_id":"ENSG00000167131"}}},"hgnc_date_symbol_changed":"2006-04-25"},"entity_type":"gene","entity_name":"CCDC103","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22581229","32447765","31858719","28790179"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 17, MIM# 614679"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ33496","KIAA1843","UNC-80"],"biotype":"protein_coding","hgnc_id":"HGNC:26582","gene_name":"unc-80 homolog, NALCN channel complex subunit","omim_gene":["612636"],"alias_name":null,"gene_symbol":"UNC80","hgnc_symbol":"UNC80","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:210636717-210864024","ensembl_id":"ENSG00000144406"}},"GRch38":{"90":{"location":"2:209771993-209999300","ensembl_id":"ENSG00000144406"}}},"hgnc_date_symbol_changed":"2009-08-17"},"entity_type":"gene","entity_name":"UNC80","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26708751","26708753","26545877","32620897","30167850","30167850"],"evidence":["Expert Review Amber","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801","MONDO:0014777"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11767"],"biotype":"protein_coding","hgnc_id":"HGNC:25678","gene_name":"EF-hand calcium binding domain 1","omim_gene":null,"alias_name":null,"gene_symbol":"EFCAB1","hgnc_symbol":"EFCAB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:49623348-49647870","ensembl_id":"ENSG00000034239"}},"GRch38":{"90":{"location":"8:48710789-48735311","ensembl_id":"ENSG00000034239"}}},"hgnc_date_symbol_changed":"2005-07-25"},"entity_type":"gene","entity_name":"EFCAB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36727596"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliary dyskinesia, primary, 53, MIM# 620642"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PNT5","GMP","cN-II","SPG65"],"biotype":"protein_coding","hgnc_id":"HGNC:8022","gene_name":"5'-nucleotidase, cytosolic II","omim_gene":["600417"],"alias_name":["purine 5' nucleotidase"],"gene_symbol":"NT5C2","hgnc_symbol":"NT5C2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104845940-104953056","ensembl_id":"ENSG00000076685"}},"GRch38":{"90":{"location":"10:103088017-103193306","ensembl_id":"ENSG00000076685"}}},"hgnc_date_symbol_changed":"2002-04-19"},"entity_type":"gene","entity_name":"NT5C2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24482476","32153630","29123918","28884889","28327087"],"evidence":["Expert Review Amber","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 45, autosomal recessive, MIM# 613162","MONDO:0013165"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSB","RAD26","ARMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3438","gene_name":"ERCC excision repair 6, chromatin remodeling factor","omim_gene":["609413"],"alias_name":["Cockayne syndrome B protein"],"gene_symbol":"ERCC6","hgnc_symbol":"ERCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50663414-50747584","ensembl_id":"ENSG00000225830"}},"GRch38":{"90":{"location":"10:49455368-49539538","ensembl_id":"ENSG00000225830"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ERCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301516","20456449","9443879","8566949"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Cockayne syndrome, type B, MIM#133540","Cerebrooculofacioskeletal syndrome 1, MIM#214150","De Sanctis-Cacchione syndrome, MIM#278800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:18249","gene_name":"potassium channel tetramerization domain containing 1","omim_gene":["613420"],"alias_name":null,"gene_symbol":"KCTD1","hgnc_symbol":"KCTD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:24034874-24237365","ensembl_id":"ENSG00000134504"}},"GRch38":{"90":{"location":"18:26454910-26657401","ensembl_id":"ENSG00000134504"}}},"hgnc_date_symbol_changed":"2002-02-19"},"entity_type":"gene","entity_name":"KCTD1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23541344","31324836"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Scalp-ear-nipple syndrome MIM#181270"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TEL"],"biotype":"protein_coding","hgnc_id":"HGNC:3495","gene_name":"ETS variant 6","omim_gene":["600618"],"alias_name":["TEL oncogene"],"gene_symbol":"ETV6","hgnc_symbol":"ETV6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:11802788-12048336","ensembl_id":"ENSG00000139083"}},"GRch38":{"90":{"location":"12:11649854-11895402","ensembl_id":"ENSG00000139083"}}},"hgnc_date_symbol_changed":"1995-11-28"},"entity_type":"gene","entity_name":"ETV6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert list"],"phenotypes":["Thrombocytopenia 5, MIM# 616216"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14490"],"biotype":"protein_coding","hgnc_id":"HGNC:25897","gene_name":"major facilitator superfamily domain containing 2A","omim_gene":["614397"],"alias_name":null,"gene_symbol":"MFSD2A","hgnc_symbol":"MFSD2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40420802-40435638","ensembl_id":"ENSG00000168389"}},"GRch38":{"90":{"location":"1:39955112-39969968","ensembl_id":"ENSG00000168389"}}},"hgnc_date_symbol_changed":"2009-09-08"},"entity_type":"gene","entity_name":"MFSD2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30043326","32572202","26005865","26005868"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTPS"],"biotype":"protein_coding","hgnc_id":"HGNC:9689","gene_name":"6-pyruvoyltetrahydropterin synthase","omim_gene":["612719"],"alias_name":null,"gene_symbol":"PTS","hgnc_symbol":"PTS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:112097088-112140678","ensembl_id":"ENSG00000150787"}},"GRch38":{"90":{"location":"11:112226365-112269955","ensembl_id":"ENSG00000150787"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PTS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22729819","21542064","20059486"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["BH4-deficient hyperphenylalaninemia A MONDO:0009863"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HNPCC","HNPCC1"],"biotype":"protein_coding","hgnc_id":"HGNC:7325","gene_name":"mutS homolog 2","omim_gene":["609309"],"alias_name":null,"gene_symbol":"MSH2","hgnc_symbol":"MSH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47630108-47789450","ensembl_id":"ENSG00000095002"}},"GRch38":{"90":{"location":"2:47402969-47562311","ensembl_id":"ENSG00000095002"}}},"hgnc_date_symbol_changed":"1993-07-28"},"entity_type":"gene","entity_name":"MSH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Mismatch repair cancer syndrome 2, MIM# 619096"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cancer","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6482","gene_name":"laminin subunit alpha 2","omim_gene":["156225"],"alias_name":["merosin","congenital muscular dystrophy"],"gene_symbol":"LAMA2","hgnc_symbol":"LAMA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:129204342-129837714","ensembl_id":"ENSG00000196569"}},"GRch38":{"90":{"location":"6:128883141-129516569","ensembl_id":"ENSG00000196569"}}},"hgnc_date_symbol_changed":"1992-05-06"},"entity_type":"gene","entity_name":"LAMA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["pharmacogenomic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UGT1A"],"biotype":"protein_coding","hgnc_id":"HGNC:12530","gene_name":"UDP glucuronosyltransferase family 1 member A1","omim_gene":["191740"],"alias_name":null,"gene_symbol":"UGT1A1","hgnc_symbol":"UGT1A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:234526291-234681956","ensembl_id":"ENSG00000241635"}},"GRch38":{"90":{"location":"2:233760248-233773299","ensembl_id":"ENSG00000241635"}}},"hgnc_date_symbol_changed":"1989-02-13"},"entity_type":"gene","entity_name":"UGT1A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26595536","29448836"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Crigler-Najjar syndrome, type I, MIM#\t218800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","liver"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11460","gene_name":"sulfite oxidase","omim_gene":["606887"],"alias_name":null,"gene_symbol":"SUOX","hgnc_symbol":"SUOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56390964-56400425","ensembl_id":"ENSG00000139531"}},"GRch38":{"90":{"location":"12:55997180-56006641","ensembl_id":"ENSG00000139531"}}},"hgnc_date_symbol_changed":"1997-03-21"},"entity_type":"gene","entity_name":"SUOX","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Sulfite oxidase deficiency, MIM# 272300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:20145","gene_name":"G protein-coupled receptor 143","omim_gene":["300808"],"alias_name":["ocular albinism 1"],"gene_symbol":"GPR143","hgnc_symbol":"GPR143","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:9693386-9754337","ensembl_id":"ENSG00000101850"}},"GRch38":{"90":{"location":"X:9725346-9786297","ensembl_id":"ENSG00000101850"}}},"hgnc_date_symbol_changed":"2003-12-01"},"entity_type":"gene","entity_name":"GPR143","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30555098","29761529"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Nystagmus 6, congenital, X-linked, MIM#300814","Ocular albinism, type I, Nettleship-Falls type, MIM#300500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bA371L19.1","hRFT2","RFVT3"],"biotype":"protein_coding","hgnc_id":"HGNC:16187","gene_name":"solute carrier family 52 member 3","omim_gene":["613350"],"alias_name":["hypothetical protein LOC113278"],"gene_symbol":"SLC52A3","hgnc_symbol":"SLC52A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:740724-749131","ensembl_id":"ENSG00000101276"}},"GRch38":{"90":{"location":"20:760080-776015","ensembl_id":"ENSG00000101276"}}},"hgnc_date_symbol_changed":"2012-02-29"},"entity_type":"gene","entity_name":"SLC52A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26973221"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of riboflavin metabolism","Brown-Vialetto-van Laere syndrome 1 MONDO:0024537"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"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":["ALK3","CD292"],"biotype":"protein_coding","hgnc_id":"HGNC:1076","gene_name":"bone morphogenetic protein receptor type 1A","omim_gene":["601299"],"alias_name":null,"gene_symbol":"BMPR1A","hgnc_symbol":"BMPR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:88516407-88692595","ensembl_id":"ENSG00000107779"}},"GRch38":{"90":{"location":"10:86756601-86932838","ensembl_id":"ENSG00000107779"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"BMPR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Polyposis syndrome, hereditary mixed, 2, MONDO:0012405","Polyposis, juvenile intestinal, MIM#174900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MCH5","MACH","FLICE","Casp-8"],"biotype":"protein_coding","hgnc_id":"HGNC:1509","gene_name":"caspase 8","omim_gene":["601763"],"alias_name":null,"gene_symbol":"CASP8","hgnc_symbol":"CASP8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202098166-202152434","ensembl_id":"ENSG00000064012"}},"GRch38":{"90":{"location":"2:201233443-201287711","ensembl_id":"ENSG00000064012"}}},"hgnc_date_symbol_changed":"1996-11-11"},"entity_type":"gene","entity_name":"CASP8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12353035","25814141","12654726","17213198","16148088","41026346"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Autoimmune lymphoproliferative syndrome, type IIB  MIM#607271"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4389,"hash_id":null,"name":"Autoimmune Lymphoproliferative Syndrome","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)","status":"public","version":"1.12","version_created":"2026-02-26T20:52:40.847942+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAP221","PCDP1"],"biotype":"protein_coding","hgnc_id":"HGNC:33720","gene_name":"cilia and flagella associated protein 221","omim_gene":null,"alias_name":["flagellar associated protein 221 homolog (Chlamydomonas)","primary ciliary dyskinesia 1 homolog (mouse)"],"gene_symbol":"CFAP221","hgnc_symbol":"CFAP221","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:120302008-120419827","ensembl_id":"ENSG00000163075"}},"GRch38":{"90":{"location":"2:119544432-119662251","ensembl_id":"ENSG00000163075"}}},"hgnc_date_symbol_changed":"2014-07-03"},"entity_type":"gene","entity_name":"CFAP221","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31636325","39362668","40250778","38960684","40272718"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliary dyskinesia, primary, 55, MIM# 279000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NMB","HGFIN"],"biotype":"protein_coding","hgnc_id":"HGNC:4462","gene_name":"glycoprotein nmb","omim_gene":["604368"],"alias_name":["transmembrane glycoprotein","glycoprotein NMB","glycoprotein nmb-like protein","osteoactivin","hematopoietic growth factor inducible neurokinin-1","glycoprotein nonmetastatic melanoma protein B"],"gene_symbol":"GPNMB","hgnc_symbol":"GPNMB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:23275586-23314727","ensembl_id":"ENSG00000136235"}},"GRch38":{"90":{"location":"7:23235967-23275108","ensembl_id":"ENSG00000136235"}}},"hgnc_date_symbol_changed":"1999-10-26"},"entity_type":"gene","entity_name":"GPNMB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29336782"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["amyloidosis, primary localized cutaneous, 3 MONDO:0054765"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"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":["SLUGH1","SNAIL2","SLUGH"],"biotype":"protein_coding","hgnc_id":"HGNC:11094","gene_name":"snail family transcriptional repressor 2","omim_gene":["602150"],"alias_name":null,"gene_symbol":"SNAI2","hgnc_symbol":"SNAI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:49830249-49834299","ensembl_id":"ENSG00000019549"}},"GRch38":{"90":{"location":"8:48917768-48921740","ensembl_id":"ENSG00000019549"}}},"hgnc_date_symbol_changed":"2002-02-28"},"entity_type":"gene","entity_name":"SNAI2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["12444107","30936914","12955764","24443330"],"evidence":["Expert Review Amber","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["piebaldism MONDO:0008244","Waardenburg syndrome type 2D MONDO:0012144"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"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":["SPL"],"biotype":"protein_coding","hgnc_id":"HGNC:10817","gene_name":"sphingosine-1-phosphate lyase 1","omim_gene":["603729"],"alias_name":null,"gene_symbol":"SGPL1","hgnc_symbol":"SGPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72575717-72640930","ensembl_id":"ENSG00000166224"}},"GRch38":{"90":{"location":"10:70815961-70881173","ensembl_id":"ENSG00000166224"}}},"hgnc_date_symbol_changed":"1999-02-03"},"entity_type":"gene","entity_name":"SGPL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33074640"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["RENI syndrome (MIM#617575)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}