Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=275
{ "count": 35522, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=276", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=274", "results": [ { "gene_data": { "alias": [ "N-ras" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7989", "gene_name": "NRAS proto-oncogene, GTPase", "omim_gene": [ "164790" ], "alias_name": null, "gene_symbol": "NRAS", "hgnc_symbol": "NRAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:115247090-115259515", "ensembl_id": "ENSG00000213281" } }, "GRch38": { "90": { "location": "1:114704469-114716894", "ensembl_id": "ENSG00000213281" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "NRAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22499344", "24006476", "10878667" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Noonan syndrome", "Melanocytic naevi", "Congenital melanocytic naevus syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PI3K" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8975", "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha", "omim_gene": [ "171834" ], "alias_name": null, "gene_symbol": "PIK3CA", "hgnc_symbol": "PIK3CA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:178865902-178957881", "ensembl_id": "ENSG00000121879" } }, "GRch38": { "90": { "location": "3:179148114-179240093", "ensembl_id": "ENSG00000121879" } } }, "hgnc_date_symbol_changed": "1994-07-15" }, "entity_type": "gene", "entity_name": "PIK3CA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22499344", "23100325", "22729224", "29446767" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Vascular malformations", "PIK3CA-related overgrowth syndromes", "CLAPO syndrome, somatic 613089", "CLOVE syndrome, somatic 612918", "Nevus, epidermal, somatic 162900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MMAC1", "TEP1", "PTEN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9588", "gene_name": "phosphatase and tensin homolog", "omim_gene": [ "601728" ], "alias_name": [ "mutated in multiple advanced cancers 1" ], "gene_symbol": "PTEN", "hgnc_symbol": "PTEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:89622870-89731687", "ensembl_id": "ENSG00000171862" } }, "GRch38": { "90": { "location": "10:87863113-87971930", "ensembl_id": "ENSG00000171862" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "PTEN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12471211", "10749983" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Epidermal naevi", "Cowden syndrome", "Bannayan-Riley-Ruvalcaba syndrome", "Melanoma" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAP", "CM-AVM", "p120GAP", "p120RASGAP", "p120" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9871", "gene_name": "RAS p21 protein activator 1", "omim_gene": [ "139150" ], "alias_name": [ "capillary malformation-arteriovenous malformation", "p120 RAS GTPase activating protein" ], "gene_symbol": "RASA1", "hgnc_symbol": "RASA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:86563705-86687748", "ensembl_id": "ENSG00000145715" } }, "GRch38": { "90": { "location": "5:87267888-87391931", "ensembl_id": "ENSG00000145715" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "RASA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30635911", "24038909" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Capillary malformation-arteriovenous malformation syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RhoA", "Rho12", "RHOH12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:667", "gene_name": "ras homolog family member A", "omim_gene": [ "165390" ], "alias_name": null, "gene_symbol": "RHOA", "hgnc_symbol": "RHOA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49396578-49450431", "ensembl_id": "ENSG00000067560" } }, "GRch38": { "90": { "location": "3:49359145-49412998", "ensembl_id": "ENSG00000067560" } } }, "hgnc_date_symbol_changed": "2004-03-23" }, "entity_type": "gene", "entity_name": "RHOA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31570889" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Blaschko-linear hypopigmentation syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FZD11" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11119", "gene_name": "smoothened, frizzled class receptor", "omim_gene": [ "601500" ], "alias_name": [ "frizzled family member 11" ], "gene_symbol": "SMO", "hgnc_symbol": "SMO", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:128828713-128853386", "ensembl_id": "ENSG00000128602" } }, "GRch38": { "90": { "location": "7:129188872-129213545", "ensembl_id": "ENSG00000128602" } } }, "hgnc_date_symbol_changed": "2003-01-17" }, "entity_type": "gene", "entity_name": "SMO", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27236920" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Curry-Jones syndrome, MIM#601707" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ33903", "PPP1R147" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20249", "gene_name": "sprouty related EVH1 domain containing 1", "omim_gene": [ "609291" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 147" ], "gene_symbol": "SPRED1", "hgnc_symbol": "SPRED1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:38544527-38649450", "ensembl_id": "ENSG00000166068" } }, "GRch38": { "90": { "location": "15:38252326-38357249", "ensembl_id": "ENSG00000166068" } } }, "hgnc_date_symbol_changed": "2003-01-24" }, "entity_type": "gene", "entity_name": "SPRED1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27423141" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Legius syndrome, MIM#\t611431" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SERCA2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:812", "gene_name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2", "omim_gene": [ "108740" ], "alias_name": [ "sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2" ], "gene_symbol": "ATP2A2", "hgnc_symbol": "ATP2A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:110718561-110788898", "ensembl_id": "ENSG00000174437" } }, "GRch38": { "90": { "location": "12:110280756-110351093", "ensembl_id": "ENSG00000174437" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "ATP2A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30085326", "26154588", "21720150", "12890216" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Darier disease, MIM# 124200" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CEK3", "TK14", "TK25", "ECT1", "K-SAM", "CD332" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3689", "gene_name": "fibroblast growth factor receptor 2", "omim_gene": [ "176943" ], "alias_name": [ "Crouzon syndrome", "Pfeiffer syndrome" ], "gene_symbol": "FGFR2", "hgnc_symbol": "FGFR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:123237848-123357972", "ensembl_id": "ENSG00000066468" } }, "GRch38": { "90": { "location": "10:121478334-121598458", "ensembl_id": "ENSG00000066468" } } }, "hgnc_date_symbol_changed": "1991-05-09" }, "entity_type": "gene", "entity_name": "FGFR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9728990", "31937562", "30580445" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Keratinocytic epidermal naevi" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "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": "", "publications": [ "32908217", "29077987" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Incontinentia pigmenti, 308300" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian 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"2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PMK", "PMKA", "HUMPMKI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9141", "gene_name": "phosphomevalonate kinase", "omim_gene": [ "607622" ], "alias_name": null, "gene_symbol": "PMVK", "hgnc_symbol": "PMVK", 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"royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ22490", "CSPP", "JBTS21" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26193", "gene_name": "centrosome and spindle pole associated protein 1", "omim_gene": [ "611654" ], "alias_name": null, "gene_symbol": "CSPP1", "hgnc_symbol": "CSPP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:67974661-68108498", "ensembl_id": "ENSG00000104218" } }, "GRch38": { "90": { "location": "8:67062426-67196263", "ensembl_id": "ENSG00000104218" } } }, "hgnc_date_symbol_changed": "2005-09-06" }, "entity_type": "gene", "entity_name": "CSPP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "https://doi.org/10.1016/S2096-6911(21)00044-3" ], "evidence": [ "Expert Review Red", "Other" ], "phenotypes": [ "Inflammatory linear verrucous epidermal naevus (ILVEN)" ], 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Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ14466", "CRACM1" ], "biotype": null, "hgnc_id": "HGNC:25896", "gene_name": "ORAI calcium release-activated calcium modulator 1", "omim_gene": [ "610277" ], "alias_name": [ "calcium release-activated calcium modulator 1" ], "gene_symbol": "ORAI1", "hgnc_symbol": "ORAI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:122064455-122080583", "ensembl_id": "ENSG00000182500" } }, "GRch38": { "90": { "location": "12:121626550-121642677", "ensembl_id": "ENSG00000276045" } } }, "hgnc_date_symbol_changed": "2007-08-14" }, "entity_type": "gene", "entity_name": "ORAI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26469693", "16582901", "20004786" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Immunodeficiency 9, MIM# 612782", "Hypocalcified amelogenesis imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7167", "gene_name": "matrix metallopeptidase 20", "omim_gene": [ "604629" ], "alias_name": [ "enamelysin" ], "gene_symbol": "MMP20", "hgnc_symbol": "MMP20", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:102447566-102496063", "ensembl_id": "ENSG00000137674" } }, "GRch38": { "90": { "location": "11:102576835-102625332", "ensembl_id": "ENSG00000137674" } } }, "hgnc_date_symbol_changed": "1999-07-23" }, "entity_type": "gene", "entity_name": "MMP20", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23625376", "26124219", "28659819", "19966041", "26502894", "28473773", "23355523", "18096894", "16246936", "15744043" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IIA2, MIM# 612529" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6716", "gene_name": "latent transforming growth factor beta binding protein 3", "omim_gene": [ "602090" ], "alias_name": null, "gene_symbol": "LTBP3", "hgnc_symbol": "LTBP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65306276-65326401", "ensembl_id": "ENSG00000168056" } }, "GRch38": { "90": { "location": "11:65538805-65558930", "ensembl_id": "ENSG00000168056" } } }, "hgnc_date_symbol_changed": "1995-05-11" }, "entity_type": "gene", "entity_name": "LTBP3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28084688", "25669657", "19344874", "25899461", "29625025" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Dental anomalies and short stature, 601216", "Amelogenesis Imperfecta", "syndromic AI with brachyolmia" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:452", "gene_name": "ameloblastin", "omim_gene": [ "601259" ], "alias_name": [ "enamel matrix protein" ], "gene_symbol": "AMBN", "hgnc_symbol": "AMBN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:71457973-71473005", "ensembl_id": "ENSG00000178522" } }, "GRch38": { "90": { "location": "4:70592256-70607288", "ensembl_id": "ENSG00000178522" } } }, "hgnc_date_symbol_changed": "1997-01-08" }, "entity_type": "gene", "entity_name": "AMBN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24858907", "26502894", "31402633", "30174330" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IF, MIM#616270" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": 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": "Other - please provide details in the comments", "publications": [ "23958762", "7706760", "23632796", "26502894", "27220909", "25769099", "24494736" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IA, MIM# 104530", "Epidermolysis bullosa, junctional 1A, intermediate MIM#226650", "Epidermolysis bullosa, junctional 1B, severe MIM#226700" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": 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": [ "22434185", "26502894", "27827380" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "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": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EMSP", "EMSP1", "PSTS", "KLK-L1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6365", "gene_name": "kallikrein related peptidase 4", "omim_gene": [ "603767" ], "alias_name": [ "enamel matrix serine proteinase 1" ], "gene_symbol": "KLK4", "hgnc_symbol": "KLK4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:51409608-51413994", "ensembl_id": "ENSG00000167749" } }, "GRch38": { "90": { "location": "19:50906352-50910738", "ensembl_id": "ENSG00000167749" } } }, "hgnc_date_symbol_changed": "1999-04-29" }, "entity_type": "gene", "entity_name": "KLK4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15235027", "23355523", "26124219", "28611678", "27066511" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IIA1, MIM# 204700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6161", "gene_name": "integrin subunit beta 6", "omim_gene": [ "147558" ], "alias_name": null, "gene_symbol": "ITGB6", "hgnc_symbol": "ITGB6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:160956177-161128399", "ensembl_id": "ENSG00000115221" } }, "GRch38": { "90": { "location": "2:160099666-160271888", "ensembl_id": "ENSG00000115221" } } }, "hgnc_date_symbol_changed": "1992-02-14" }, "entity_type": "gene", "entity_name": "ITGB6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25431241", "26695873", "24305999", "24319098" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IH, MIM# 616221" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "OGR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4519", "gene_name": "G protein-coupled receptor 68", "omim_gene": [ "601404" ], "alias_name": null, "gene_symbol": "GPR68", "hgnc_symbol": "GPR68", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:91698876-91720269", "ensembl_id": "ENSG00000119714" } }, "GRch38": { "90": { "location": "14:91232532-91253925", "ensembl_id": "ENSG00000119714" } } }, "hgnc_date_symbol_changed": "1999-10-22" }, "entity_type": "gene", "entity_name": "GPR68", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27693231", "32279993" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ46072" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24797", "gene_name": "family with sequence similarity 83 member H", "omim_gene": [ "611927" ], "alias_name": null, "gene_symbol": "FAM83H", "hgnc_symbol": "FAM83H", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144806103-144815971", "ensembl_id": "ENSG00000180921" } }, "GRch38": { "90": { "location": "8:143723933-143733801", "ensembl_id": "ENSG00000180921" } } }, "hgnc_date_symbol_changed": "2006-03-23" }, "entity_type": "gene", "entity_name": "FAM83H", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other - please provide details in the comments", "publications": [ "18484629", "19407157", "19825039", "26481691", "21702852", "20160442", "26142250", "22414746", "19828885", "19220331", "26502894", "18252228", "21597265", "21118793", "26788537", "26171361" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IIIA MIM#130900" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IMAGE:4942737", "DKFZp547D065", "DMP4", "G-CK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22140", "gene_name": "FAM20C, golgi associated secretory pathway kinase", "omim_gene": [ "611061" ], "alias_name": [ "dentin matrix protein 4", "golgi casein kinase" ], "gene_symbol": "FAM20C", "hgnc_symbol": "FAM20C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:192969-300711", "ensembl_id": "ENSG00000177706" } }, "GRch38": { "90": { "location": "7:192969-260745", "ensembl_id": "ENSG00000177706" } } }, "hgnc_date_symbol_changed": "2003-09-03" }, "entity_type": "gene", "entity_name": "FAM20C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24982027", "20825432", "24458843", "20453638", "25928877", "27667191", "23325605", "27862258", "19250384", "17924334", "24039075" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Raine syndrome MIM#259775", "hypoplastic Amelogenesis Imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp434F2322" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23015", "gene_name": "FAM20A, golgi associated secretory pathway pseudokinase", "omim_gene": [ "611062" ], "alias_name": null, "gene_symbol": "FAM20A", "hgnc_symbol": "FAM20A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:66531254-66597530", "ensembl_id": "ENSG00000108950" } }, "GRch38": { "90": { "location": "17:68535113-68601389", "ensembl_id": "ENSG00000108950" } } }, "hgnc_date_symbol_changed": "2003-09-03" }, "entity_type": "gene", "entity_name": "FAM20A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23434854", "23697977", "23468644", "24756937", "21549343", "24259279", "24196488", "26502894", "25827751", "21990045" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3344", "gene_name": "enamelin", "omim_gene": [ "606585" ], "alias_name": null, "gene_symbol": "ENAM", "hgnc_symbol": "ENAM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:71494461-71552533", "ensembl_id": "ENSG00000132464" } }, "GRch38": { "90": { "location": "4:70628744-70686816", "ensembl_id": "ENSG00000132464" } } }, "hgnc_date_symbol_changed": "1999-05-17" }, "entity_type": "gene", "entity_name": "ENAM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33864320", "14684688", "11978766", "12407086", "20439930", "25769099", "22540999", "25143514", "22029166", "19329462", "28334996", "26502894", "17316551", "21597265", "16246937", "15723871", "11487571" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IB, MIM# 104500", "Amelogenesis imperfecta, type IC, MIM# 204650" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2916", "gene_name": "distal-less homeobox 3", "omim_gene": [ "600525" ], "alias_name": null, "gene_symbol": "DLX3", "hgnc_symbol": "DLX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48067369-48072588", "ensembl_id": "ENSG00000064195" } }, "GRch38": { "90": { "location": "17:49990005-49995224", "ensembl_id": "ENSG00000064195" } } }, "hgnc_date_symbol_changed": "1995-05-16" }, "entity_type": "gene", "entity_name": "DLX3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9467018, 15666299" ], "evidence": [ "Literature", "Expert Review Green" ], "phenotypes": [ "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, MONDO:0007093" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": 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": [ "26502894", "27558265", "8669466", "16820943" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Epidermolysis bullosa, junctional, non-Herlitz type, MIM#226650 (includes enamel pitting)", "Amelogenesis imperfecta MONDO:0019507, COL17A1-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ23657", "AI2A4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26300", "gene_name": "odontogenesis associated phosphoprotein", "omim_gene": [ "614829" ], "alias_name": [ "amelogenesis imperfecta type IIA4" ], "gene_symbol": "C4orf26", "hgnc_symbol": "ODAPH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:76481258-76491095", "ensembl_id": "ENSG00000174792" } }, "GRch38": { "90": { "location": "4:75556048-75565885", "ensembl_id": "ENSG00000174792" } } }, "hgnc_date_symbol_changed": "2017-08-09" }, "entity_type": "gene", "entity_name": "C4orf26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22901946", "27558265" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis Imperfecta, Type IIA4, MIM#614832", "hypomineralized amelogenesis imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:461", "gene_name": "amelogenin, X-linked", "omim_gene": [ "300391" ], "alias_name": [ "amelogenesis imperfecta 1" ], "gene_symbol": "AMELX", "hgnc_symbol": "AMELX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:11311533-11318881", "ensembl_id": "ENSG00000125363" } }, "GRch38": { "90": { "location": "X:11293413-11300761", "ensembl_id": "ENSG00000125363" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "AMELX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17189466", "22243263", "7599636", "23251683", "1483698", "1916828", "9188994", "15111628", "11201048", "26502894", "7782077", "11922869", "28130977", "8406474", "11839357", "25117480", "19610109" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type 1E, 301200", "hypomaturation AI with variable hypoplastic foci", "smooth hypoplastic AI" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [ "SV/CNV" ], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1592" ], "biotype": "protein_coding", "hgnc_id": "HGNC:105", "gene_name": "cyclin and CBS domain divalent metal cation transport mediator 4", "omim_gene": [ "607805" ], "alias_name": null, "gene_symbol": "CNNM4", "hgnc_symbol": "CNNM4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:97426639-97477628", "ensembl_id": "ENSG00000158158" } }, "GRch38": { "90": { "location": "2:96760902-96811891", "ensembl_id": "ENSG00000158158" } } }, "hgnc_date_symbol_changed": "1999-12-07" }, "entity_type": "gene", "entity_name": "CNNM4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19200527", "19200525", "30705057" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Jalili syndrome, MIM#217080", "cone-rod dystrophy and amelogenesis imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:14376", "gene_name": "acid phosphatase 4", "omim_gene": [ "606362" ], "alias_name": [ "testicular acid phosphatase" ], "gene_symbol": "ACP4", "hgnc_symbol": "ACP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:51293672-51298481", "ensembl_id": "ENSG00000142513" } }, "GRch38": { "90": { "location": "19:50790415-50795224", "ensembl_id": "ENSG00000142513" } } }, "hgnc_date_symbol_changed": "2017-06-23" }, "entity_type": "gene", "entity_name": "ACP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28513613", "27843125", "33552707" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IJ, MIM#617297", "hypoplastic amelogenesis imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NCKX4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10978", "gene_name": "solute carrier family 24 member 4", "omim_gene": [ "609840" ], "alias_name": null, "gene_symbol": "SLC24A4", "hgnc_symbol": "SLC24A4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:92788925-92962596", "ensembl_id": "ENSG00000140090" } }, "GRch38": { "90": { "location": "14:92322581-92501483", "ensembl_id": "ENSG00000140090" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "SLC24A4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24621671", "25442250", "24532815", "26502894", "27129268", "23375655" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IIA5, MIM# 615887" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TMPT27", "TPARL", "GDT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30760", "gene_name": "transmembrane protein 165", "omim_gene": [ "614726" ], "alias_name": [ "TPA regulated locus" ], "gene_symbol": "TMEM165", "hgnc_symbol": "TMEM165", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:56262124-56319564", "ensembl_id": "ENSG00000134851" } }, "GRch38": { "90": { "location": "4:55395957-55453397", "ensembl_id": "ENSG00000134851" } } }, "hgnc_date_symbol_changed": "2006-07-17" }, "entity_type": "gene", "entity_name": "TMEM165", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22683087" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Congenital disorder of glycosylation, type IIk, MIM# 614727", "amelogenesis imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "p51", "SHFM4", "EEC3", "p63", "p73L", "OFC8", "KET", "p73H", "NBP", "p53CP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15979", "gene_name": "tumor protein p63", "omim_gene": [ "603273" ], "alias_name": null, "gene_symbol": "TP63", "hgnc_symbol": "TP63", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:189349205-189615068", "ensembl_id": "ENSG00000073282" } }, "GRch38": { "90": { "location": "3:189631416-189897279", "ensembl_id": "ENSG00000073282" } } }, "hgnc_date_symbol_changed": "2002-04-18" }, "entity_type": "gene", "entity_name": "TP63", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22065540" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Split-hand/foot malformation 4, MIM# 605289" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "BAF60B", "Rsc6p", "CRACD2", "PRO2451" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11107", "gene_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2", "omim_gene": [ "601736" ], "alias_name": [ "mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B" ], "gene_symbol": "SMARCD2", "hgnc_symbol": "SMARCD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:61909444-61920425", "ensembl_id": "ENSG00000108604" } }, "GRch38": { "90": { "location": "17:63832081-63843065", "ensembl_id": "ENSG00000108604" } } }, "hgnc_date_symbol_changed": "1998-05-15" }, "entity_type": "gene", "entity_name": "SMARCD2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28369036" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Specific granule deficiency 2, 617475" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UNQ689", "RSTI689" ], "biotype": "protein_coding", "hgnc_id": "HGNC:33188", "gene_name": "amelotin", "omim_gene": [ "610912" ], "alias_name": null, "gene_symbol": "AMTN", "hgnc_symbol": "AMTN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:71384257-71398459", "ensembl_id": "ENSG00000187689" } }, "GRch38": { "90": { "location": "4:70518540-70532742", "ensembl_id": "ENSG00000187689" } } }, "hgnc_date_symbol_changed": "2006-12-06" }, "entity_type": "gene", "entity_name": "AMTN", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "27412008", "25715379", "26620968" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IIIB" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kir1.1", "ROMK1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6255", "gene_name": "potassium voltage-gated channel subfamily J member 1", "omim_gene": [ "600359" ], "alias_name": null, "gene_symbol": "KCNJ1", "hgnc_symbol": "KCNJ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:128706210-128737268", "ensembl_id": "ENSG00000151704" } }, "GRch38": { "90": { "location": "11:128836315-128867373", "ensembl_id": "ENSG00000151704" } } }, "hgnc_date_symbol_changed": "1993-08-03" }, "entity_type": "gene", "entity_name": "KCNJ1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23341834" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis Imperfecta", "Bartter syndrome, type 2, 241200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KLF14", "Epfn" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14530", "gene_name": "Sp6 transcription factor", "omim_gene": [ "608613" ], "alias_name": [ "epiprofin" ], "gene_symbol": "SP6", "hgnc_symbol": "SP6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:45922279-45933240", "ensembl_id": "ENSG00000189120" } }, "GRch38": { "90": { "location": "17:47844908-47855874", "ensembl_id": "ENSG00000189120" } } }, "hgnc_date_symbol_changed": "2001-02-06" }, "entity_type": "gene", "entity_name": "SP6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "18297738", "32167558", "18156176", "22676574", "33652941" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IK, MIM# 620104" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ38736" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26790", "gene_name": "WD repeat domain 72", "omim_gene": [ "613214" ], "alias_name": null, "gene_symbol": "WDR72", "hgnc_symbol": "WDR72", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:53805938-54055075", "ensembl_id": "ENSG00000166415" } }, "GRch38": { "90": { "location": "15:53513741-53762878", "ensembl_id": "ENSG00000166415" } } }, "hgnc_date_symbol_changed": "2005-05-26" }, "entity_type": "gene", "entity_name": "WDR72", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21196691", "27259663", "20938048", "26502894", "23293580", "25008349", "19853237" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Amelogenesis imperfecta, type IIA3, MIM# 613211" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20695" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22965", "gene_name": "peroxisomal biogenesis factor 26", "omim_gene": [ "608666" ], "alias_name": null, "gene_symbol": "PEX26", "hgnc_symbol": "PEX26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:18560689-18613905", "ensembl_id": "ENSG00000215193" } }, "GRch38": { "90": { "location": "22:18077920-18131138", "ensembl_id": "ENSG00000215193" } } }, "hgnc_date_symbol_changed": "2003-08-05" }, "entity_type": "gene", "entity_name": "PEX26", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28944237", "33926089" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Heimler syndrome", "Amelogenesis imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": 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": [ "26956061" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "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": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": 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": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650", "Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2040", "gene_name": "claudin 19", "omim_gene": [ "610036" ], "alias_name": null, "gene_symbol": "CLDN19", "hgnc_symbol": "CLDN19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:43198764-43205925", "ensembl_id": "ENSG00000164007" } }, "GRch38": { "90": { "location": "1:42733093-42740254", "ensembl_id": "ENSG00000164007" } } }, "hgnc_date_symbol_changed": "2000-03-15" }, "entity_type": "gene", "entity_name": "CLDN19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27530400" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190", "Amelogenesis imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PCLN1", "HOMG3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2037", "gene_name": "claudin 16", "omim_gene": [ "603959" ], "alias_name": [ "paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis" ], "gene_symbol": "CLDN16", "hgnc_symbol": "CLDN16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:190040330-190129932", "ensembl_id": "ENSG00000113946" } }, "GRch38": { "90": { "location": "3:190322541-190412143", "ensembl_id": "ENSG00000113946" } } }, "hgnc_date_symbol_changed": "2000-01-07" }, "entity_type": "gene", "entity_name": "CLDN16", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26426912" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hypomagnesaemia 3, renal, MIM# 248250", "Amelogenesis imperfecta" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NACT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23089", "gene_name": "solute carrier family 13 member 5", "omim_gene": [ "608305" ], "alias_name": null, "gene_symbol": "SLC13A5", "hgnc_symbol": "SLC13A5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6588032-6616886", "ensembl_id": "ENSG00000141485" } }, "GRch38": { "90": { "location": "17:6684713-6713567", "ensembl_id": "ENSG00000141485" } } }, "hgnc_date_symbol_changed": "2003-09-09" }, "entity_type": "gene", "entity_name": "SLC13A5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27261973", "26384929", "27600704", "24995870" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DMP3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3054", "gene_name": "dentin sialophosphoprotein", "omim_gene": [ "125485" ], "alias_name": null, "gene_symbol": "DSPP", "hgnc_symbol": "DSPP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:88529681-88538062", "ensembl_id": "ENSG00000152591" } }, "GRch38": { "90": { "location": "4:87608529-87616910", "ensembl_id": "ENSG00000152591" } } }, "hgnc_date_symbol_changed": "1997-01-08" }, "entity_type": "gene", "entity_name": "DSPP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 18456718, 11175779" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Dentinogenesis imperfecta, Shields type II, OMIM #125490" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MM1", "KIAA0315", "PLEXB2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9104", "gene_name": "plexin B2", "omim_gene": [ "604293" ], "alias_name": null, "gene_symbol": "PLXNB2", "hgnc_symbol": "PLXNB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50713408-50746056", "ensembl_id": "ENSG00000196576" } }, "GRch38": { "90": { "location": "22:50274979-50307627", "ensembl_id": "ENSG00000196576" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "PLXNB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38458752" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Syndromic disease MONDO:0002254, PLXNB2 -related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3564, "hash_id": null, "name": "Amelogenesis imperfecta", "disease_group": "Skeletal disorders", "disease_sub_group": "", "description": "This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.14", "version_created": "2026-01-09T15:02:14.439855+11:00", "relevant_disorders": [ "Amelogenesis imperfecta", "HP:0000705" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC99481" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25095", "gene_name": "DDB1 and CUL4 associated factor 15", "omim_gene": null, "alias_name": null, "gene_symbol": "DCAF15", "hgnc_symbol": "DCAF15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:14063304-14072254", "ensembl_id": "ENSG00000132017" } }, "GRch38": { "90": { "location": "19:13952492-13961449", "ensembl_id": "ENSG00000132017" } } }, "hgnc_date_symbol_changed": "2009-07-17" }, "entity_type": "gene", "entity_name": "DCAF15", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Amber", "Other" ], "phenotypes": [ "Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:29366", "gene_name": "centrosomal protein 295", "omim_gene": [ "617728" ], "alias_name": null, "gene_symbol": "CEP295", "hgnc_symbol": "CEP295", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:93394805-93463522", "ensembl_id": "ENSG00000166004" } }, "GRch38": { "90": { "location": "11:93661639-93730358", "ensembl_id": "ENSG00000166004" } } }, "hgnc_date_symbol_changed": "2014-09-25" }, "entity_type": "gene", "entity_name": "CEP295", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 38154379" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Seckel syndrome 11, OMIM # 620767" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; Growth delay", "HP:0001510" ], "stats": { "number_of_genes": 204, "number_of_strs": 0, "number_of_regions": 4 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FBP21", "MGC117310" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12739", "gene_name": "WW domain binding protein 4", "omim_gene": [ "604981" ], "alias_name": [ "formin binding protein 21" ], "gene_symbol": "WBP4", "hgnc_symbol": "WBP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:41635410-41658137", "ensembl_id": "ENSG00000120688" } }, "GRch38": { "90": { "location": "13:41061274-41084006", "ensembl_id": "ENSG00000120688" } } }, "hgnc_date_symbol_changed": "1999-09-16" }, "entity_type": "gene", "entity_name": "WBP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37425688" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder, MONDO:0700092, WBP4-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3631, "hash_id": null, "name": "Growth failure", "disease_group": "", "disease_sub_group": "", "description": "This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.", "status": "public", "version": "1.102", "version_created": "2026-04-01T10:17:12.005431+11:00", "relevant_disorders": [ "Failure to thrive", "HP:0001508; 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