Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=41
{ "count": 35521, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=42", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=40", "results": [ { "gene_data": { "alias": [ "DD5", "HYD", "EDD", "KIAA0896" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16806", "gene_name": "ubiquitin protein ligase E3 component n-recognin 5", "omim_gene": [ "608413" ], "alias_name": null, "gene_symbol": "UBR5", "hgnc_symbol": "UBR5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:103265240-103425069", "ensembl_id": "ENSG00000104517" } }, "GRch38": { "90": { "location": "8:102253012-102412841", "ensembl_id": "ENSG00000104517" } } }, "hgnc_date_symbol_changed": "2007-06-19" }, "entity_type": "gene", "entity_name": "UBR5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39721588" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Mi-2b", "Mi2-BETA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1919", "gene_name": "chromodomain helicase DNA binding protein 4", "omim_gene": [ "603277" ], "alias_name": null, "gene_symbol": "CHD4", "hgnc_symbol": "CHD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:6679249-6716642", "ensembl_id": "ENSG00000111642" } }, "GRch38": { "90": { "location": "12:6570083-6607476", "ensembl_id": "ENSG00000111642" } } }, "hgnc_date_symbol_changed": "1998-03-20" }, "entity_type": "gene", "entity_name": "CHD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31388190", "32881470" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Sifrim-Hitz-Weiss syndrome, MIM #617159" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3341", "gene_name": "empty spiracles homeobox 2", "omim_gene": [ "600035" ], "alias_name": null, "gene_symbol": "EMX2", "hgnc_symbol": "EMX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:119301955-119309056", "ensembl_id": "ENSG00000170370" } }, "GRch38": { "90": { "location": "10:117542444-117549546", "ensembl_id": "ENSG00000170370" } } }, "hgnc_date_symbol_changed": "1994-02-08" }, "entity_type": "gene", "entity_name": "EMX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "41765865", "34829455", "33434492", "25577462" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related", "46,XX or XY DSD, EMX2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HUGT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15663", "gene_name": "UDP-glucose glycoprotein glucosyltransferase 1", "omim_gene": [ "605897" ], "alias_name": null, "gene_symbol": "UGGT1", "hgnc_symbol": "UGGT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:128848774-128953251", "ensembl_id": "ENSG00000136731" } }, "GRch38": { "90": { "location": "2:128091200-128195677", "ensembl_id": "ENSG00000136731" } } }, "hgnc_date_symbol_changed": "2009-07-23" }, "entity_type": "gene", "entity_name": "UGGT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Congenital disorder of glycosylation, type IICC, MIM# 621381" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9099", "gene_name": "plexin A1", "omim_gene": [ "601055" ], "alias_name": null, "gene_symbol": "PLXNA1", "hgnc_symbol": "PLXNA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:126707437-126756235", "ensembl_id": "ENSG00000114554" } }, "GRch38": { "90": { "location": "3:126988594-127037392", "ensembl_id": "ENSG00000114554" } } }, "hgnc_date_symbol_changed": "1998-08-13" }, "entity_type": "gene", "entity_name": "PLXNA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28334861", "30467832", "34636164" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp761B107" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25405", "gene_name": "coiled-coil domain containing 149", "omim_gene": null, "alias_name": null, "gene_symbol": "CCDC149", "hgnc_symbol": "CCDC149", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:24807739-24981826", "ensembl_id": "ENSG00000181982" } }, "GRch38": { "90": { "location": "4:24806117-24980204", "ensembl_id": "ENSG00000181982" } } }, "hgnc_date_symbol_changed": "2008-03-03" }, "entity_type": "gene", "entity_name": "CCDC149", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40459248" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Cryptorchidism, MONDO:0009047, CCDC149-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "nNOS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7872", "gene_name": "nitric oxide synthase 1", "omim_gene": [ "163731" ], "alias_name": null, "gene_symbol": "NOS1", "hgnc_symbol": "NOS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:117645947-117889975", "ensembl_id": "ENSG00000089250" } }, "GRch38": { "90": { "location": "12:117208142-117452170", "ensembl_id": "ENSG00000089250" } } }, "hgnc_date_symbol_changed": "1992-06-09" }, "entity_type": "gene", "entity_name": "NOS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36197968" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism, MONDO:0018555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0028", "LEURS", "MGC26121", "mtLeuRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17095", "gene_name": "leucyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "604544" ], "alias_name": [ "leucine tRNA ligase 2, mitochondrial" ], "gene_symbol": "LARS2", "hgnc_symbol": "LARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:45429998-45590913", "ensembl_id": "ENSG00000011376" } }, "GRch38": { "90": { "location": "3:45388506-45549421", "ensembl_id": "ENSG00000011376" } } }, "hgnc_date_symbol_changed": "2003-09-01" }, "entity_type": "gene", "entity_name": "LARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32423379", "29205794", "23541342", "30737337", "26657938" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Perrault syndrome 4, MIM# 615300" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HO3", "HARSR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4817", "gene_name": "histidyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "600783" ], "alias_name": [ "histidine tRNA ligase 2, mitochondrial (putative)" ], "gene_symbol": "HARS2", "hgnc_symbol": "HARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:140071011-140078889", "ensembl_id": "ENSG00000112855" } }, "GRch38": { "90": { "location": "5:140691426-140699291", "ensembl_id": "ENSG00000112855" } } }, "hgnc_date_symbol_changed": "2007-02-23" }, "entity_type": "gene", "entity_name": "HARS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 27650058", "21464306", "27087618" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Perrault syndrome 2, MIM# 614926" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "mtMetRS", "SPAX3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25133", "gene_name": "methionyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "609728" ], "alias_name": [ "methionine tRNA ligase 2, mitochondrial" ], "gene_symbol": "MARS2", "hgnc_symbol": "MARS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:198570087-198573113", "ensembl_id": "ENSG00000247626" } }, "GRch38": { "90": { "location": "2:197705369-197708387", "ensembl_id": "ENSG00000247626" } } }, "hgnc_date_symbol_changed": "2004-12-02" }, "entity_type": "gene", "entity_name": "MARS2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27650058", "21464306", "27087618" ], "evidence": [ "Expert Review Red", "Expert Review" ], "phenotypes": [ "Perrault syndrome 2, MIM# 614926" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RPC1", "RPC155", "hRPC155" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30074", "gene_name": "RNA polymerase III subunit A", "omim_gene": [ "614258" ], "alias_name": null, "gene_symbol": "POLR3A", "hgnc_symbol": "POLR3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:79734907-79789303", "ensembl_id": "ENSG00000148606" } }, "GRch38": { "90": { "location": "10:77969251-78029545", "ensembl_id": "ENSG00000148606" } } }, "hgnc_date_symbol_changed": "2004-09-16" }, "entity_type": "gene", "entity_name": "POLR3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21855841", "25339210", "33005949", "22855961" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "POLR3A-related disorder MONDO:0700276" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11195", "gene_name": "SRY-box 2", "omim_gene": [ "184429" ], "alias_name": null, "gene_symbol": "SOX2", "hgnc_symbol": "SOX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:181429714-181432221", "ensembl_id": "ENSG00000181449" } }, "GRch38": { "90": { "location": "3:181711924-181714436", "ensembl_id": "ENSG00000181449" } } }, "hgnc_date_symbol_changed": "1993-11-30" }, "entity_type": "gene", "entity_name": "SOX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 20301477" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799", "Microphthalmia, syndromic 3, MIM# 206900", "Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PiT-1", "Glvr-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10946", "gene_name": "solute carrier family 20 member 1", "omim_gene": [ "137570" ], "alias_name": [ "gibbon ape leukemia virus receptor 1" ], "gene_symbol": "SLC20A1", "hgnc_symbol": "SLC20A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:113403434-113421404", "ensembl_id": "ENSG00000144136" } }, "GRch38": { "90": { "location": "2:112645857-112663827", "ensembl_id": "ENSG00000144136" } } }, "hgnc_date_symbol_changed": "1989-10-18" }, "entity_type": "gene", "entity_name": "SLC20A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 32850778, 27013921" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0381" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18143", "gene_name": "dishevelled associated activator of morphogenesis 2", "omim_gene": [ "606627" ], "alias_name": null, "gene_symbol": "DAAM2", "hgnc_symbol": "DAAM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:39760142-39872648", "ensembl_id": "ENSG00000146122" } }, "GRch38": { "90": { "location": "6:39792298-39904877", "ensembl_id": "ENSG00000146122" } } }, "hgnc_date_symbol_changed": "2002-02-06" }, "entity_type": "gene", "entity_name": "DAAM2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36972684" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Androgen insensitivity syndrome, MONDO:0019154, DAAM2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BCNS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9585", "gene_name": "patched 1", "omim_gene": [ "601309" ], "alias_name": null, "gene_symbol": "PTCH1", "hgnc_symbol": "PTCH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:98205262-98279339", "ensembl_id": "ENSG00000185920" } }, "GRch38": { "90": { "location": "9:95442980-95517057", "ensembl_id": "ENSG00000185920" } } }, "hgnc_date_symbol_changed": "2006-09-26" }, "entity_type": "gene", "entity_name": "PTCH1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Amber", "Other" ], "phenotypes": [ "Exstrophy-epispadias complex MONDO:0017919, PTCH1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GRF-1", "p190ARhoGAP", "P190A", "KIAA1722", "p190RhoGAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4591", "gene_name": "Rho GTPase activating protein 35", "omim_gene": [ "605277" ], "alias_name": null, "gene_symbol": "ARHGAP35", "hgnc_symbol": "ARHGAP35", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:47421933-47508334", "ensembl_id": "ENSG00000160007" } }, "GRch38": { "90": { "location": "19:46918676-47005077", "ensembl_id": "ENSG00000160007" } } }, "hgnc_date_symbol_changed": "2011-06-07" }, "entity_type": "gene", "entity_name": "ARHGAP35", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36178483" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11191", "gene_name": "SRY-box 11", "omim_gene": [ "600898" ], "alias_name": [ "SRY-related HMG-box gene 11" ], "gene_symbol": "SOX11", "hgnc_symbol": "SOX11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:5832799-5841516", "ensembl_id": "ENSG00000176887" } }, "GRch38": { "90": { "location": "2:5692667-5701385", "ensembl_id": "ENSG00000176887" } } }, "hgnc_date_symbol_changed": "1995-06-08" }, "entity_type": "gene", "entity_name": "SOX11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29459093", "24886874", "33086258", "33785884", "35642566", "35341651" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SEMA1", "SemD", "coll-1", "Hsema-I" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10723", "gene_name": "semaphorin 3A", "omim_gene": [ "603961" ], "alias_name": [ "sema III" ], "gene_symbol": "SEMA3A", "hgnc_symbol": "SEMA3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:83585093-84122040", "ensembl_id": "ENSG00000075213" } }, "GRch38": { "90": { "location": "7:83955777-84492724", "ensembl_id": "ENSG00000075213" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "SEMA3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28075028", "33369061", "20301509", "21059704", "24124006", "22927827" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 99, "hash_id": null, "name": "Differences of Sex Development", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.", "status": "public", "version": "1.50", "version_created": "2026-04-12T14:14:27.453739+10:00", "relevant_disorders": [ "Abnormality of the genital system", "HP:0000078" ], "stats": { "number_of_genes": 142, "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": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:20406", "gene_name": "keratin 6C", "omim_gene": [ "612315" ], "alias_name": null, "gene_symbol": "KRT6C", "hgnc_symbol": "KRT6C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52862300-52867569", "ensembl_id": "ENSG00000170465" } }, "GRch38": { "90": { "location": "12:52468516-52473785", "ensembl_id": "ENSG00000170465" } } }, "hgnc_date_symbol_changed": "2006-07-17" }, "entity_type": "gene", "entity_name": "KRT6C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "31823354", "23662636" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6427", "gene_name": "keratin 17", "omim_gene": [ "148069" ], "alias_name": null, "gene_symbol": "KRT17", "hgnc_symbol": "KRT17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39775689-39781094", "ensembl_id": "ENSG00000128422" } }, "GRch38": { "90": { "location": "17:41619437-41624842", "ensembl_id": "ENSG00000128422" } } }, "hgnc_date_symbol_changed": "1993-10-18" }, "entity_type": "gene", "entity_name": "KRT17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "11886499", "21326300" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Pachyonychia congenita 2 (MIM#167210)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VAKTI", "LEKTI", "LETKI", "NETS", "NS", "FLJ21544", "FLJ97536", "FLJ97596", "FLJ99794", "DKFZp686K19184" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15464", "gene_name": "serine peptidase inhibitor, Kazal type 5", "omim_gene": [ "605010" ], "alias_name": [ "lymphoepithelial Kazal-type-related inhibitor" ], "gene_symbol": "SPINK5", "hgnc_symbol": "SPINK5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:147405246-147516852", "ensembl_id": "ENSG00000133710" } }, "GRch38": { "90": { "location": "5:148025683-148137289", "ensembl_id": "ENSG00000133710" } } }, "hgnc_date_symbol_changed": "2001-03-30" }, "entity_type": "gene", "entity_name": "SPINK5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19683336" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Netherton syndrome (MIM#256500)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NEPPK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6423", "gene_name": "keratin 16", "omim_gene": [ "148067" ], "alias_name": [ "focal non-epidermolytic palmoplantar keratoderma" ], "gene_symbol": "KRT16", "hgnc_symbol": "KRT16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39766030-39772151", "ensembl_id": "ENSG00000186832" } }, "GRch38": { "90": { "location": "17:41609778-41615899", "ensembl_id": "ENSG00000186832" } } }, "hgnc_date_symbol_changed": "1992-12-14" }, "entity_type": "gene", "entity_name": "KRT16", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "16250206" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Pachyonychia congenita 1 (MIM#167200)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CK6C", "K6C", "CK6D", "K6D" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6443", "gene_name": "keratin 6A", "omim_gene": [ "148041" ], "alias_name": null, "gene_symbol": "KRT6A", "hgnc_symbol": "KRT6A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52880958-52887041", "ensembl_id": "ENSG00000205420" } }, "GRch38": { "90": { "location": "12:52487174-52493257", "ensembl_id": "ENSG00000205420" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT6A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "32017015", "21326300" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Pachyonychia congenita 3 MIM#615726" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6444", "gene_name": "keratin 6B", "omim_gene": [ "148042" ], "alias_name": null, "gene_symbol": "KRT6B", "hgnc_symbol": "KRT6B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52840435-52845910", "ensembl_id": "ENSG00000185479" } }, "GRch38": { "90": { "location": "12:52446651-52452126", "ensembl_id": "ENSG00000185479" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT6B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "24611874", "21326300" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Pachyonychia congenita 4 MIM#615728" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LH3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9083", "gene_name": "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3", "omim_gene": [ "603066" ], "alias_name": [ "lysyl hydroxlase 3" ], "gene_symbol": "PLOD3", "hgnc_symbol": "PLOD3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:100849258-100861701", "ensembl_id": "ENSG00000106397" } }, "GRch38": { "90": { "location": "7:101205977-101218420", "ensembl_id": "ENSG00000106397" } } }, "hgnc_date_symbol_changed": "1998-09-25" }, "entity_type": "gene", "entity_name": "PLOD3", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "18834968", "30463024" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Blistering skin lesions" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. 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Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IFPS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33276", "gene_name": "filaggrin family member 2", "omim_gene": [ "616284" ], "alias_name": null, "gene_symbol": "FLG2", "hgnc_symbol": "FLG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:152321211-152332482", "ensembl_id": "ENSG00000143520" } }, "GRch38": { "90": { "location": "1:152348735-152360006", "ensembl_id": "ENSG00000143520" } } }, "hgnc_date_symbol_changed": "2007-08-21" }, "entity_type": "gene", "entity_name": "FLG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29758285", "28884927", "29505760" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Peeling skin syndrome 6, MIM#\t618084" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2214", "gene_name": "collagen type VII alpha 1 chain", "omim_gene": [ "120120" ], "alias_name": [ "collagen VII, alpha-1 polypeptide", "LC collagen" ], "gene_symbol": "COL7A1", "hgnc_symbol": "COL7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:48601506-48632700", "ensembl_id": "ENSG00000114270" } }, "GRch38": { "90": { "location": "3:48564073-48595267", "ensembl_id": "ENSG00000114270" } } }, "hgnc_date_symbol_changed": "1991-11-01" }, "entity_type": "gene", "entity_name": "COL7A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "EBD inversa, MIM# 226600", "EBD, Bart type MIM# 132000", "EBD, localisata variant", "Epidermolysis bullosa dystrophica, MIM# 131750", "Epidermolysis bullosa dystrophica, 226600", "Epidermolysis bullosa pruriginosa 604129", "Epidermolysis bullosa, pretibial, MIM# 131850", "Transient bullous of the newborn 131705" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. 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Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BP240", "KIAA0728", "FLJ21489", "FLJ13425", "FLJ32235", "FLJ30627", "CATX-15", "BPA", "MACF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1090", "gene_name": "dystonin", "omim_gene": [ "113810" ], "alias_name": null, "gene_symbol": "DST", "hgnc_symbol": "DST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:56322785-56819426", "ensembl_id": "ENSG00000151914" } }, "GRch38": { "90": { "location": "6:56457987-56954628", "ensembl_id": "ENSG00000151914" } } }, "hgnc_date_symbol_changed": "2004-07-01" }, "entity_type": "gene", "entity_name": "DST", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20164846", "22113475", "33471381" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SLAC2-B" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30578", "gene_name": "exophilin 5", "omim_gene": [ "612878" ], "alias_name": [ "synaptotagmin-like homologue lacking C2 domains b" ], "gene_symbol": "EXPH5", "hgnc_symbol": "EXPH5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:108376158-108464465", "ensembl_id": "ENSG00000110723" } }, "GRch38": { "90": { "location": "11:108505431-108593738", "ensembl_id": "ENSG00000110723" } } }, "hgnc_date_symbol_changed": "2005-10-04" }, "entity_type": "gene", "entity_name": "EXPH5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23176819", "32176379", "27730671", "27384765" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20116", "URP1", "KIND1", "UNC112A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15889", "gene_name": "fermitin family member 1", "omim_gene": [ "607900" ], "alias_name": [ "kindlin-1", "kinderlin" ], "gene_symbol": "FERMT1", "hgnc_symbol": "FERMT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:6055492-6104191", "ensembl_id": "ENSG00000101311" } }, "GRch38": { "90": { "location": "20:6074845-6123544", "ensembl_id": "ENSG00000101311" } } }, "hgnc_date_symbol_changed": "2007-12-14" }, "entity_type": "gene", "entity_name": "FERMT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12789646" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Kindler syndrome, MIM# 173650" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD49c", "VLA3a", "VCA-2", "GAP-B3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6139", "gene_name": "integrin subunit alpha 3", "omim_gene": [ "605025" ], "alias_name": [ "alpha 3 subunit of VLA-3 receptor", "antigen CD49C" ], "gene_symbol": "ITGA3", "hgnc_symbol": "ITGA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48133332-48167845", "ensembl_id": "ENSG00000005884" } }, "GRch38": { "90": { "location": "17:50055968-50090481", "ensembl_id": "ENSG00000005884" } } }, "hgnc_date_symbol_changed": "1992-02-27" }, "entity_type": "gene", "entity_name": "ITGA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22512483", "25810266", "27717396", "32198874", "26854491" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD49f" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6142", "gene_name": "integrin subunit alpha 6", "omim_gene": [ "147556" ], "alias_name": null, "gene_symbol": "ITGA6", "hgnc_symbol": "ITGA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:173292082-173371181", "ensembl_id": "ENSG00000091409" } }, "GRch38": { "90": { "location": "2:172427354-172506282", "ensembl_id": "ENSG00000091409" } } }, "hgnc_date_symbol_changed": "1991-08-06" }, "entity_type": "gene", "entity_name": "ITGA6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31502654", "27607025", "9158140" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CD104" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6158", "gene_name": "integrin subunit beta 4", "omim_gene": [ "147557" ], "alias_name": null, "gene_symbol": "ITGB4", "hgnc_symbol": "ITGB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73717408-73753899", "ensembl_id": "ENSG00000132470" } }, "GRch38": { "90": { "location": "17:75721328-75757818", "ensembl_id": "ENSG00000132470" } } }, "hgnc_date_symbol_changed": "1991-08-06" }, "entity_type": "gene", "entity_name": "ITGB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11328943", "9670011", "33225458", "30079450", "29380424", "29198538", "28557647" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa of hands and feet, MIM# 131800", "Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650", "Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DP3", "PDGB", "PKGB", "DPIII" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6207", "gene_name": "junction plakoglobin", "omim_gene": [ "173325" ], "alias_name": null, "gene_symbol": "JUP", "hgnc_symbol": "JUP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39775692-39943183", "ensembl_id": "ENSG00000173801" } }, "GRch38": { "90": { "location": "17:41754604-41786931", "ensembl_id": "ENSG00000173801" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "JUP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21320868", "29173316" ], "evidence": [ "Expert Review Green", "Expert Review Amber", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Naxos disease MIM#601214", "Congenital epidermolysis bullosa" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DHSR", "SDR35C1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4021", "gene_name": "3-ketodihydrosphingosine reductase", "omim_gene": [ "136440" ], "alias_name": [ "3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1" ], "gene_symbol": "KDSR", "hgnc_symbol": "KDSR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:60994959-61034743", "ensembl_id": "ENSG00000119537" } }, "GRch38": { "90": { "location": "18:63327726-63367510", "ensembl_id": "ENSG00000119537" } } }, "hgnc_date_symbol_changed": "2008-02-20" }, "entity_type": "gene", "entity_name": "KDSR", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Erythrokeratodermia variabilis et progressiva 4 MIM#617526" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DRE1", "FLJ20059" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25947", "gene_name": "kelch like family member 24", "omim_gene": [ "611295" ], "alias_name": null, "gene_symbol": "KLHL24", "hgnc_symbol": "KLHL24", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:183353356-183402265", "ensembl_id": "ENSG00000114796" } }, "GRch38": { "90": { "location": "3:183635568-183684477", "ensembl_id": "ENSG00000114796" } } }, "hgnc_date_symbol_changed": "2005-09-10" }, "entity_type": "gene", "entity_name": "KLHL24", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27889062", "27798626" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6416", "gene_name": "keratin 14", "omim_gene": [ "148066" ], "alias_name": [ "epidermolysis bullosa simplex, Dowling-Meara, Koebner" ], "gene_symbol": "KRT14", "hgnc_symbol": "KRT14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39738531-39743173", "ensembl_id": "ENSG00000186847" } }, "GRch38": { "90": { "location": "17:41582279-41586921", "ensembl_id": "ENSG00000186847" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "KRT14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "16960809", "18049449" ], "evidence": [ "Expert Review Green", "NHS GMS", "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa simplex, recessive 1, 601001", "Dermatopathia pigmentosa reticularis, 125595", "Epidermolysis bullosa simplex, Dowling-Meara type, 131760", "Epidermolysis bullosa simplex, Koebner type, 131900", "Epidermolysis bullosa simplex, Weber-Cockayne type, 131800", "Naegeli-Franceschetti-Jadassohn syndrome, 161000" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KRT5A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6442", "gene_name": "keratin 5", "omim_gene": [ "148040" ], "alias_name": null, "gene_symbol": "KRT5", "hgnc_symbol": "KRT5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52908359-52914471", "ensembl_id": "ENSG00000186081" } }, "GRch38": { "90": { "location": "12:52514575-52520687", "ensembl_id": "ENSG00000186081" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dowling-Degos disease 1, MIM# 179850", "Epidermolysis bullosa simplex-MCR, MIM# 609352", "Epidermolysis bullosa simplex-MP 131960", "Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760", "Epidermolysis bullosa simplex, Koebner type, MIM# 131900", "Epidermolysis bullosa simplex, recessive 1, MIM# 601001", "Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nicein-150kDa", "kalinin-165kDa", "BM600-150kDa", "epiligrin" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6483", "gene_name": "laminin subunit alpha 3", "omim_gene": [ "600805" ], "alias_name": null, "gene_symbol": "LAMA3", "hgnc_symbol": "LAMA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:21269407-21535030", "ensembl_id": "ENSG00000053747" } }, "GRch38": { "90": { "location": "18:23689443-23955066", "ensembl_id": "ENSG00000053747" } } }, "hgnc_date_symbol_changed": "1993-12-14" }, "entity_type": "gene", "entity_name": "LAMA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7633458", "8530087", "11810295", "10366601" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, junctional 2A, intermediate\tMIM#619783", "Epidermolysis bullosa, junctional 2B, severe\tMIM#619784", "Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous\tMIM#245660" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nicein-125kDa", "kalinin-140kDa", "BM600-125kDa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6490", "gene_name": "laminin subunit beta 3", "omim_gene": [ "150310" ], "alias_name": null, "gene_symbol": "LAMB3", "hgnc_symbol": "LAMB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:209788215-209825811", "ensembl_id": "ENSG00000196878" } }, "GRch38": { "90": { "location": "1:209614870-209652466", "ensembl_id": "ENSG00000196878" } } }, "hgnc_date_symbol_changed": "1993-12-14" }, "entity_type": "gene", "entity_name": "LAMB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11023379", "7706760" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700", "Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "nicein-100kDa", "kalinin-105kDa", "BM600-100kDa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6493", "gene_name": "laminin subunit gamma 2", "omim_gene": [ "150292" ], "alias_name": null, "gene_symbol": "LAMC2", "hgnc_symbol": "LAMC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:183155373-183214035", "ensembl_id": "ENSG00000058085" } }, "GRch38": { "90": { "location": "1:183186238-183244900", "ensembl_id": "ENSG00000058085" } } }, "hgnc_date_symbol_changed": "1993-07-13" }, "entity_type": "gene", "entity_name": "LAMC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11810295", "25888738", "24533970" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, junctional 3A, intermediate MIM#619785", "Epidermolysis bullosa, junctional 3B, severe MIM#619786" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "B6P" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9023", "gene_name": "plakophilin 1", "omim_gene": [ "601975" ], "alias_name": [ "ectodermal dysplasia/skin fragility syndrome" ], "gene_symbol": "PKP1", "hgnc_symbol": "PKP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:201252580-201302121", "ensembl_id": "ENSG00000081277" } }, "GRch38": { "90": { "location": "1:201283452-201332993", "ensembl_id": "ENSG00000081277" } } }, "hgnc_date_symbol_changed": "1996-10-18" }, "entity_type": "gene", "entity_name": "PKP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24073657", "16781314", "11994137", "10951270", "32346906" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Ectodermal dysplasia/skin fragility syndrome, MIM# 604536" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PCN", "PLTN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9069", "gene_name": "plectin", "omim_gene": [ "601282" ], "alias_name": null, "gene_symbol": "PLEC", "hgnc_symbol": "PLEC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144989321-145050902", "ensembl_id": "ENSG00000178209" } }, "GRch38": { "90": { "location": "8:143915147-143976734", "ensembl_id": "ENSG00000178209" } } }, "hgnc_date_symbol_changed": "2010-02-04" }, "entity_type": "gene", "entity_name": "PLEC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670", "Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138", "Epidermolysis bullosa simplex, Ogna type, MIM# 131950" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TGX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11781", "gene_name": "transglutaminase 5", "omim_gene": [ "603805" ], "alias_name": null, "gene_symbol": "TGM5", "hgnc_symbol": "TGM5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:43524793-43559055", "ensembl_id": "ENSG00000104055" } }, "GRch38": { "90": { "location": "15:43232595-43266857", "ensembl_id": "ENSG00000104055" } } }, "hgnc_date_symbol_changed": "1999-03-19" }, "entity_type": "gene", "entity_name": "TGM5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16380904" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Peeling skin syndrome 2, MIM# 609796" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BP180" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2194", "gene_name": "collagen type XVII alpha 1 chain", "omim_gene": [ "113811" ], "alias_name": null, "gene_symbol": "COL17A1", "hgnc_symbol": "COL17A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:105791044-105845760", "ensembl_id": "ENSG00000065618" } }, "GRch38": { "90": { "location": "10:104031286-104086002", "ensembl_id": "ENSG00000065618" } } }, "hgnc_date_symbol_changed": "1993-09-27" }, "entity_type": "gene", "entity_name": "COL17A1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Epidermolysis bullosa, junctional, localisata variant, MIM# 226650", "Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650", "Epithelial recurrent erosion dystrophy, MIM# 122400" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12422", "gene_name": "tuftelin 1", "omim_gene": [ "600087" ], "alias_name": null, "gene_symbol": "TUFT1", "hgnc_symbol": "TUFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:151512781-151556059", "ensembl_id": "ENSG00000143367" } }, "GRch38": { "90": { "location": "1:151540305-151583583", "ensembl_id": "ENSG00000143367" } } }, "hgnc_date_symbol_changed": "1993-08-24" }, "entity_type": "gene", "entity_name": "TUFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36689522", "36928819", "37716648" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review" ], "phenotypes": [ "Woolly hair-skin fragility syndrome, MIM# 620415" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1515", "gene_name": "calpastatin", "omim_gene": [ "114090" ], "alias_name": null, "gene_symbol": "CAST", "hgnc_symbol": "CAST", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:95860971-96115299", "ensembl_id": "ENSG00000153113" } }, "GRch38": { "90": { "location": "5:96525267-96779595", "ensembl_id": "ENSG00000153113" } } }, "hgnc_date_symbol_changed": "1990-07-03" }, "entity_type": "gene", "entity_name": "CAST", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "25683118" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZIP4", "AWMS2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17129", "gene_name": "solute carrier family 39 member 4", "omim_gene": [ "607059" ], "alias_name": null, "gene_symbol": "SLC39A4", "hgnc_symbol": "SLC39A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145635126-145642279", "ensembl_id": "ENSG00000147804" } }, "GRch38": { "90": { "location": "8:144409742-144416895", "ensembl_id": "ENSG00000147804" } } }, "hgnc_date_symbol_changed": "2002-02-13" }, "entity_type": "gene", "entity_name": "SLC39A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19370757" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Acrodermatitis enteropathica (MIM#201100)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHF3", "DSC", "DSC1", "DSC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3037", "gene_name": "desmocollin 3", "omim_gene": [ "600271" ], "alias_name": null, "gene_symbol": "DSC3", "hgnc_symbol": "DSC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:28569974-28622781", "ensembl_id": "ENSG00000134762" } }, "GRch38": { "90": { "location": "18:30990008-31042815", "ensembl_id": "ENSG00000134762" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "DSC3", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "19765682", "20159115", "24690439", "31790667" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Hypotrichosis and recurrent skin vesicles (MIM# \t613102)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "K10", "CK10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6413", "gene_name": "keratin 10", "omim_gene": [ "148080" ], "alias_name": [ "cytokeratin 10", "epidermolytic hyperkeratosis" ], "gene_symbol": "KRT10", "hgnc_symbol": "KRT10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:38974369-38978847", "ensembl_id": "ENSG00000186395" } }, "GRch38": { "90": { "location": "17:40818117-40822595", "ensembl_id": "ENSG00000186395" } } }, "hgnc_date_symbol_changed": "1988-08-12" }, "entity_type": "gene", "entity_name": "KRT10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "1380725", "1381287", "7508181", "20798280", "16505000", "18219278", "19474805" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epidermolytic hyperkeratosis (MIM#113800)", "Ichthyosis with confetti (MIM#609165)", "Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D6S586E" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1802", "gene_name": "corneodesmosin", "omim_gene": [ "602593" ], "alias_name": null, "gene_symbol": "CDSN", "hgnc_symbol": "CDSN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:31082867-31088223", "ensembl_id": "ENSG00000204539" } }, "GRch38": { "90": { "location": "6:31115090-31120446", "ensembl_id": "ENSG00000204539" } } }, "hgnc_date_symbol_changed": "1998-05-14" }, "entity_type": "gene", "entity_name": "CDSN", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "23957618", "20691404", "21191406", "25473393" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Peeling skin syndrome 1\t(MIM#270300)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHF4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3048", "gene_name": "desmoglein 1", "omim_gene": [ "125670" ], "alias_name": null, "gene_symbol": "DSG1", "hgnc_symbol": "DSG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:28898052-28936992", "ensembl_id": "ENSG00000134760" } }, "GRch38": { "90": { "location": "18:31318089-31357029", "ensembl_id": "ENSG00000134760" } } }, "hgnc_date_symbol_changed": "1991-03-04" }, "entity_type": "gene", "entity_name": "DSG1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "19558595", "23974871", "29229434" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)", "Keratosis palmoplantaris striata I, AD (MIM# 148700)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KRT1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6412", "gene_name": "keratin 1", "omim_gene": [ "139350" ], "alias_name": null, "gene_symbol": "KRT1", "hgnc_symbol": "KRT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:53068520-53074191", "ensembl_id": "ENSG00000167768" } }, "GRch38": { "90": { "location": "12:52674736-52680407", "ensembl_id": "ENSG00000167768" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7511022", "21271994" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Epidermolytic hyperkeratosis (MIM#113800", "Epidermolytic ichthyosis" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2481", "gene_name": "cystatin A", "omim_gene": [ "184600" ], "alias_name": [ "stefin A" ], "gene_symbol": "CSTA", "hgnc_symbol": "CSTA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:122044091-122060819", "ensembl_id": "ENSG00000121552" } }, "GRch38": { "90": { "location": "3:122325244-122341972", "ensembl_id": "ENSG00000121552" } } }, "hgnc_date_symbol_changed": "1990-02-06" }, "entity_type": "gene", "entity_name": "CSTA", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "23534700", "25400170", "21944047" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Peeling skin syndrome 4\t(MIM#607936)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IKK-gamma", "NEMO", "Fip3p", "FIP-3", "FIP3", "ZC2HC9" ], "biotype": null, "hgnc_id": "HGNC:5961", "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma", "omim_gene": [ "300248" ], "alias_name": null, "gene_symbol": "IKBKG", "hgnc_symbol": "IKBKG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153769414-153796782", "ensembl_id": "ENSG00000073009" } }, "GRch38": { "90": { "location": "X:154541199-154565046", "ensembl_id": "ENSG00000269335" } } }, "hgnc_date_symbol_changed": "1998-09-30" }, "entity_type": "gene", "entity_name": "IKBKG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12588226", "30151858", "10839543", "11673821" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Incontinentia pigmenti (MIM#308300)" ], "mode_of_inheritance": "Other", "tags": [ "SV/CNV" ], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KRTE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6439", "gene_name": "keratin 2", "omim_gene": [ "600194" ], "alias_name": [ "epidermal ichthyosis bullosa of Siemens" ], "gene_symbol": "KRT2", "hgnc_symbol": "KRT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:53038342-53045948", "ensembl_id": "ENSG00000172867" } }, "GRch38": { "90": { "location": "12:52644558-52652164", "ensembl_id": "ENSG00000172867" } } }, "hgnc_date_symbol_changed": "2006-07-17" }, "entity_type": "gene", "entity_name": "KRT2", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "26581228", "22612346" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Superficial epidermolytic ichthyosis (SEI) (MIM#146800)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CST6", "PME" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2482", "gene_name": "cystatin B", "omim_gene": [ "601145" ], "alias_name": [ "stefin B" ], "gene_symbol": "CSTB", "hgnc_symbol": "CSTB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:45192393-45196326", "ensembl_id": "ENSG00000160213" } }, "GRch38": { "90": { "location": "21:43772511-43776445", "ensembl_id": "ENSG00000160213" } } }, "hgnc_date_symbol_changed": "1996-12-12" }, "entity_type": "gene", "entity_name": "CSTB", "confidence_level": "2", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "28457472" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Keratolytic winter erythema\t(MIM#148370)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "SV/CNV" ], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.", "status": "public", "version": "1.27", "version_created": "2026-03-08T22:19:30.435795+11:00", "relevant_disorders": [ "Abnormal blistering of the skin", "HP:0008066" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CDHF6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3050", "gene_name": "desmoglein 3", "omim_gene": [ "169615" ], "alias_name": [ "pemphigus vulgaris antigen" ], "gene_symbol": "DSG3", "hgnc_symbol": "DSG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29027758-29058665", "ensembl_id": "ENSG00000134757" } }, "GRch38": { "90": { "location": "18:31447795-31478702", "ensembl_id": "ENSG00000134757" } } }, "hgnc_date_symbol_changed": "1992-08-25" }, "entity_type": "gene", "entity_name": "DSG3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26763450", "37850634", "30528827" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 101, "hash_id": null, "name": "Epidermolysis bullosa", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. 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