Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=354
{ "count": 35514, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=355", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=353", "results": [ { "gene_data": { "alias": [ "MSU" ], "biotype": "protein_coding", "hgnc_id": "HGNC:986", "gene_name": "branched chain keto acid dehydrogenase E1, alpha polypeptide", "omim_gene": [ "608348" ], "alias_name": [ "maple syrup urine disease" ], "gene_symbol": "BCKDHA", "hgnc_symbol": "BCKDHA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:41884215-41930910", "ensembl_id": "ENSG00000248098" } }, "GRch38": { "90": { "location": "19:41397460-41425005", "ensembl_id": "ENSG00000248098" } } }, "hgnc_date_symbol_changed": "1989-06-30" }, "entity_type": "gene", "entity_name": "BCKDHA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Maple syrup urine disease, type Ia, MIM# 248600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ZAP-70", "STD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12858", "gene_name": "zeta chain of T-cell receptor associated protein kinase 70", "omim_gene": [ "176947" ], "alias_name": [ "tyrosine-protein kinase ZAP-70" ], "gene_symbol": "ZAP70", "hgnc_symbol": "ZAP70", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:98330023-98356325", "ensembl_id": "ENSG00000115085" } }, "GRch38": { "90": { "location": "2:97713560-97739862", "ensembl_id": "ENSG00000115085" } } }, "hgnc_date_symbol_changed": "1995-05-16" }, "entity_type": "gene", "entity_name": "ZAP70", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 20301777", "32579701" ], "evidence": [ "Expert Review Green", "Expert List" ], "phenotypes": [ "Immunodeficiency MIM#176947" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:362", "gene_name": "adenylate kinase 2", "omim_gene": [ "103020" ], "alias_name": null, "gene_symbol": "AK2", "hgnc_symbol": "AK2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:33473585-33546597", "ensembl_id": "ENSG00000004455" } }, "GRch38": { "90": { "location": "1:33007940-33080996", "ensembl_id": "ENSG00000004455" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "AK2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert list" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "VLCAD", "LCACD", "ACAD6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:92", "gene_name": "acyl-CoA dehydrogenase very long chain", "omim_gene": [ "609575" ], "alias_name": null, "gene_symbol": "ACADVL", "hgnc_symbol": "ACADVL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7120444-7128592", "ensembl_id": "ENSG00000072778" } }, "GRch38": { "90": { "location": "17:7217125-7225273", "ensembl_id": "ENSG00000072778" } } }, "hgnc_date_symbol_changed": "1996-05-30" }, "entity_type": "gene", "entity_name": "ACADVL", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 20301763", "32885845", "31372341" ], "evidence": [ "Expert list" ], "phenotypes": [ "VLCAD deficiency\tMIM#201475" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MCAD", "MCADH", "ACAD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:89", "gene_name": "acyl-CoA dehydrogenase medium chain", "omim_gene": [ "607008" ], "alias_name": [ "medium-chain acyl-CoA dehydrogenase" ], "gene_symbol": "ACADM", "hgnc_symbol": "ACADM", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:76190036-76253260", "ensembl_id": "ENSG00000117054" } }, "GRch38": { "90": { "location": "1:75724347-75787575", "ensembl_id": "ENSG00000117054" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "ACADM", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Acyl-CoA dehydrogenase, medium chain, deficiency of\tMIM# 201450" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "P450c21B", "CA21H", "CPS1", "CAH1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2600", "gene_name": "cytochrome P450 family 21 subfamily A member 2", "omim_gene": [ "613815" ], "alias_name": [ "Steroid 21-monooxygenase" ], "gene_symbol": "CYP21A2", "hgnc_symbol": "CYP21A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:32006042-32009447", "ensembl_id": "ENSG00000231852" } }, "GRch38": { "90": { "location": "6:32038265-32041670", "ensembl_id": "ENSG00000231852" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "CYP21A2", "confidence_level": "0", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [], "evidence": [ "Other" ], "phenotypes": [ "CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HI", "PHHI", "SUR1", "MRP8", "ABC36", "HHF1", "TNDM2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:59", "gene_name": "ATP binding cassette subfamily C member 8", "omim_gene": [ "600509" ], "alias_name": [ "sulfonylurea receptor (hyperinsulinemia)" ], "gene_symbol": "ABCC8", "hgnc_symbol": "ABCC8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:17414432-17498449", "ensembl_id": "ENSG00000006071" } }, "GRch38": { "90": { "location": "11:17392885-17476845", "ensembl_id": "ENSG00000006071" } } }, "hgnc_date_symbol_changed": "1995-01-10" }, "entity_type": "gene", "entity_name": "ABCC8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 20301620", "32027066", "20922570", "16885549" ], "evidence": [ "Expert Review Amber", "Expert list" ], "phenotypes": [ "Diabetes mellitus, permanent neonatal 3 MIM# 618857" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4118", "gene_name": "galactokinase 1", "omim_gene": [ "604313" ], "alias_name": null, "gene_symbol": "GALK1", "hgnc_symbol": "GALK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73747675-73761792", "ensembl_id": "ENSG00000108479" } }, "GRch38": { "90": { "location": "17:75751594-75765711", "ensembl_id": "ENSG00000108479" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GALK1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "32807972" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Galactokinase deficiency with cataracts MIM#230200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EPD", "PDE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:877", "gene_name": "aldehyde dehydrogenase 7 family member A1", "omim_gene": [ "107323" ], "alias_name": [ "antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase" ], "gene_symbol": "ALDH7A1", "hgnc_symbol": "ALDH7A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:125877533-125931110", "ensembl_id": "ENSG00000164904" } }, "GRch38": { "90": { "location": "5:126531200-126595418", "ensembl_id": "ENSG00000164904" } } }, "hgnc_date_symbol_changed": "1995-12-11" }, "entity_type": "gene", "entity_name": "ALDH7A1", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "PMID: 20301659", "33200442" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Epilepsy, pyridoxine-dependent, MIM#266100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "D22S676", "D22S750", "TC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11653", "gene_name": "transcobalamin 2", "omim_gene": [ "613441" ], "alias_name": [ "macrocytic anemia" ], "gene_symbol": "TCN2", "hgnc_symbol": "TCN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:31002825-31023265", "ensembl_id": "ENSG00000185339" } }, "GRch38": { "90": { "location": "22:30606838-30627278", "ensembl_id": "ENSG00000185339" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TCN2", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": null, "publications": [ "PMID: 24305960" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Transcobalamin II deficiency, MIM#275350" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8582", "gene_name": "phenylalanine hydroxylase", "omim_gene": [ "612349" ], "alias_name": [ "phenylalanine 4-monooxygenase" ], "gene_symbol": "PAH", "hgnc_symbol": "PAH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:103230663-103352188", "ensembl_id": "ENSG00000171759" } }, "GRch38": { "90": { "location": "12:102836885-102958410", "ensembl_id": "ENSG00000171759" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "PAH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 39630157", "40378670" ], "evidence": [ "Expert list" ], "phenotypes": [ "Phenylketonuria MIM#261600" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4456, "hash_id": null, "name": "Genomic newborn screening: ICoNS", "disease_group": "Screening", "disease_sub_group": "", "description": "UNDER CONSTRUCTION. DO NOT USE.", "status": "public", "version": "0.35", "version_created": "2026-03-13T07:28:16.180055+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 20, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOP10P", "MGC70651" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14378", "gene_name": "NOP10 ribonucleoprotein", "omim_gene": [ "606471" ], "alias_name": [ "homolog of yeast Nop10p" ], "gene_symbol": "NOP10", "hgnc_symbol": "NOP10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:34633917-34635378", "ensembl_id": "ENSG00000182117" } }, "GRch38": { "90": { "location": "15:34341713-34343177", "ensembl_id": "ENSG00000182117" } } }, "hgnc_date_symbol_changed": "2008-10-13" }, "entity_type": "gene", "entity_name": "NOP10", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17507419", "32554502", "32139460" ], "evidence": [ "Expert Review Amber", "Literature", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "dyskeratosis congenita, autosomal recessive 1 MONDO:0009136" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of 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{ "82": { "location": "12:88886570-88974628", "ensembl_id": "ENSG00000049130" } }, "GRch38": { "90": { "location": "12:88492793-88580851", "ensembl_id": "ENSG00000049130" } } }, "hgnc_date_symbol_changed": "1991-06-04" }, "entity_type": "gene", "entity_name": "KITLG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "19375057", "21368769", "35543077" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "hyperpigmentation with or without hypopigmentation, familial progressive\tMONDO:0007771" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney 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"alias": [ "KIAA0790", "dJ323M4.1", "SH3D6A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19182", "gene_name": "SAM and SH3 domain containing 1", "omim_gene": [ "607955" ], "alias_name": null, "gene_symbol": "SASH1", "hgnc_symbol": "SASH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:148593440-148873186", "ensembl_id": "ENSG00000111961" } }, "GRch38": { "90": { "location": "6:148272304-148552050", "ensembl_id": "ENSG00000111961" } } }, "hgnc_date_symbol_changed": "2003-11-27" }, "entity_type": "gene", "entity_name": "SASH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23333244", "27885802", "32981204" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "dyschromatosis universalis hereditaria 1 MONDO:0024524" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, 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"Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "EST45597", "umat", "MTABC3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:47", "gene_name": "ATP binding cassette subfamily B member 6 (Langereis blood group)", "omim_gene": [ "605452" ], "alias_name": [ "ATP-binding cassette half-transporter" ], "gene_symbol": "ABCB6", "hgnc_symbol": "ABCB6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:220074490-220083712", "ensembl_id": "ENSG00000115657" } }, "GRch38": { "90": { "location": "2:219209768-219218990", "ensembl_id": "ENSG00000115657" } } }, "hgnc_date_symbol_changed": "1999-10-26" }, "entity_type": "gene", "entity_name": "ABCB6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23519333", "24224009", "24498303", "25288164", "35024399", "30430618" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "dyschromatosis universalis hereditaria 3 MONDO:0014169" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DAN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8609", "gene_name": "poly(A)-specific ribonuclease", "omim_gene": [ "604212" ], "alias_name": [ "deadenylation nuclease" ], "gene_symbol": "PARN", "hgnc_symbol": "PARN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:14529558-14726585", "ensembl_id": "ENSG00000140694" } }, "GRch38": { "90": { "location": "16:14435701-14632728", "ensembl_id": "ENSG00000140694" } } }, "hgnc_date_symbol_changed": "1998-07-23" }, "entity_type": "gene", "entity_name": "PARN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30525901", "25893599", "25848748", "31448843" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0014612" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney 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"alias": [ "REPA1", "RPA70", "HSSB", "RF-A", "RP-A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10289", "gene_name": "replication protein A1", "omim_gene": [ "179835" ], "alias_name": null, "gene_symbol": "RPA1", "hgnc_symbol": "RPA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:1732996-1803376", "ensembl_id": "ENSG00000132383" } }, "GRch38": { "90": { "location": "17:1829702-1900082", "ensembl_id": "ENSG00000132383" } } }, "hgnc_date_symbol_changed": "1993-12-14" }, "entity_type": "gene", "entity_name": "RPA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34767620" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0030690" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TIN2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11824", "gene_name": "TERF1 interacting nuclear factor 2", "omim_gene": [ "604319" ], "alias_name": null, "gene_symbol": "TINF2", "hgnc_symbol": "TINF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:24708849-24711880", "ensembl_id": "ENSG00000092330" } }, "GRch38": { "90": { "location": "14:24239643-24242674", "ensembl_id": "ENSG00000092330" } } }, "hgnc_date_symbol_changed": "1999-11-19" }, "entity_type": "gene", "entity_name": "TINF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18252230", "21477109", "18979121", "18669893", "21199492", "33097095" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dyskeratosis congenita, autosomal dominant 3 MONDO:0013522" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "bK3184A7.3", "NHL", "DKFZP434C013", "KIAA1088", "RTEL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15888", "gene_name": "regulator of telomere elongation helicase 1", "omim_gene": [ "608833" ], "alias_name": null, "gene_symbol": "RTEL1", "hgnc_symbol": "RTEL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:62289163-62328416", "ensembl_id": "ENSG00000258366" } }, "GRch38": { "90": { "location": "20:63657810-63696253", "ensembl_id": "ENSG00000258366" } } }, "hgnc_date_symbol_changed": "2004-10-29" }, "entity_type": "gene", "entity_name": "RTEL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301779", "23329068", "15210109", "23453664", "19461895", "25848748", "25607374" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "dyskeratosis congenita MONDO:0015780" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn 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"HGNC:11730", "gene_name": "telomerase reverse transcriptase", "omim_gene": [ "187270" ], "alias_name": null, "gene_symbol": "TERT", "hgnc_symbol": "TERT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:1253262-1295184", "ensembl_id": "ENSG00000164362" } }, "GRch38": { "90": { "location": "5:1253147-1295069", "ensembl_id": "ENSG00000164362" } } }, "hgnc_date_symbol_changed": "1998-01-21" }, "entity_type": "gene", "entity_name": "TERT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16247010", "15814878" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dyskeratosis congenita MONDO:0015780" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TR", "hTR", "TRC3", "SCARNA19" ], "biotype": "lincRNA", "hgnc_id": "HGNC:11727", "gene_name": "telomerase RNA component", "omim_gene": [ "602322" ], "alias_name": [ "small Cajal body-specific RNA 19" ], "gene_symbol": "TERC", "hgnc_symbol": "TERC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:169482308-169482848", "ensembl_id": "ENSG00000270141" } }, "GRch38": { "90": { "location": "3:169764520-169765060", "ensembl_id": "ENSG00000270141" } } }, "hgnc_date_symbol_changed": "1997-07-25" }, "entity_type": "gene", "entity_name": "TERC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "11574891" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Dyskeratosis congenita, autosomal dominant 1 MONDO:0007485" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IKK-gamma", "NEMO", "Fip3p", "FIP-3", "FIP3", "ZC2HC9" ], "biotype": null, "hgnc_id": "HGNC:5961", "gene_name": "inhibitor of nuclear factor kappa B kinase subunit gamma", "omim_gene": [ "300248" ], "alias_name": null, "gene_symbol": "IKBKG", "hgnc_symbol": "IKBKG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153769414-153796782", "ensembl_id": "ENSG00000073009" } }, "GRch38": { "90": { "location": "X:154541199-154565046", "ensembl_id": "ENSG00000269335" } } }, "hgnc_date_symbol_changed": "1998-09-30" }, "entity_type": "gene", "entity_name": "IKBKG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31874111", "35289316" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Incontinentia pigmenti MONDO:0010631" ], "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": [ "technically challenging" ], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RAD30A", "XP-V" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9181", "gene_name": "DNA polymerase eta", "omim_gene": [ "603968" ], "alias_name": null, "gene_symbol": "POLH", "hgnc_symbol": "POLH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:43543887-43586701", "ensembl_id": "ENSG00000170734" } }, "GRch38": { "90": { "location": "6:43576150-43615660", "ensembl_id": "ENSG00000170734" } } }, "hgnc_date_symbol_changed": "1997-09-12" }, "entity_type": "gene", "entity_name": "POLH", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10385124", "10398605" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Xeroderma pigmentosum variant type MONDO:0010214" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin 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"child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6416", "gene_name": "keratin 14", "omim_gene": [ "148066" ], "alias_name": [ "epidermolysis bullosa simplex, Dowling-Meara, Koebner" ], "gene_symbol": "KRT14", "hgnc_symbol": "KRT14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39738531-39743173", "ensembl_id": "ENSG00000186847" } }, "GRch38": { "90": { "location": "17:41582279-41586921", "ensembl_id": "ENSG00000186847" } } }, "hgnc_date_symbol_changed": "1992-04-09" }, "entity_type": "gene", "entity_name": "KRT14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16960809", "18049449" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "dermatopathia pigmentosa reticularis MONDO:0007445" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT 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"number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3437", "gene_name": "ERCC excision repair 5, endonuclease", "omim_gene": [ "133530" ], "alias_name": [ "Cockayne syndrome" ], "gene_symbol": "ERCC5", "hgnc_symbol": "ERCC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:103497194-103528345", "ensembl_id": "ENSG00000134899" } }, "GRch38": { "90": { "location": "13:102844844-102876001", "ensembl_id": "ENSG00000134899" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ERCC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30838033", "24700531" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "xeroderma pigmentosum group G MONDO:0010216" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RAD1", "FANCQ" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3436", "gene_name": "ERCC excision repair 4, endonuclease catalytic subunit", "omim_gene": [ "133520" ], "alias_name": [ "xeroderma pigmentosum, complementation group F" ], "gene_symbol": "ERCC4", "hgnc_symbol": "ERCC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:14014014-14046202", "ensembl_id": "ENSG00000175595" } }, "GRch38": { "90": { "location": 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hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "XPB", "BTF2", "RAD25", "TFIIH", "GTF2H" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3435", "gene_name": "ERCC excision repair 3, TFIIH core 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"Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ptop", "Pip1", "Tpp1", "Tint1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25070", "gene_name": "ACD, shelterin complex subunit and telomerase recruitment factor", "omim_gene": [ "609377" ], "alias_name": [ "TIN2 interacting protein 1", "POT1 and TIN2 organizing protein" ], "gene_symbol": "ACD", "hgnc_symbol": "ACD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67691415-67694713", "ensembl_id": "ENSG00000102977" } }, "GRch38": { "90": { "location": "16:67657512-67660815", "ensembl_id": "ENSG00000102977" } } }, "hgnc_date_symbol_changed": "2005-01-04" }, "entity_type": "gene", "entity_name": "ACD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27807141", "31515401", "30995915", "27528712", "25205116", "24316971", "30064976", "33446513", "25233904" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "ACD-related short telomere syndrome MONDO:0100569" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MAG", "EM9", "MGC102762", "MGC126218", "MGC126219", "TFIIH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3434", "gene_name": "ERCC excision repair 2, TFIIH core complex helicase subunit", "omim_gene": [ "126340" ], "alias_name": [ "excision repair cross-complementing rodent repair deficiency, complementation group 2 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"rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RAD10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3433", "gene_name": "ERCC excision repair 1, endonuclease non-catalytic subunit", "omim_gene": [ "126380" ], "alias_name": null, "gene_symbol": "ERCC1", "hgnc_symbol": "ERCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:45910591-45982086", "ensembl_id": "ENSG00000012061" } }, "GRch38": { "90": { "location": "19:45407333-45478828", "ensembl_id": "ENSG00000012061" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "ERCC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "17273966", "23623389", "32557569", "26085086", "33315086" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "cerebrooculofacioskeletal syndrome 4 MONDO:0012554", "Xeroderma pigmentosum" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DDBB", "UV-DDB2", "FLJ34321", "XPE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2718", "gene_name": "damage specific DNA binding protein 2", "omim_gene": [ "600811" ], "alias_name": [ "xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit" ], "gene_symbol": "DDB2", "hgnc_symbol": "DDB2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47236493-47260767", "ensembl_id": "ENSG00000134574" } }, "GRch38": { "90": { "location": "11:47214465-47239240", "ensembl_id": "ENSG00000134574" } } }, "hgnc_date_symbol_changed": "1995-07-06" }, "entity_type": "gene", "entity_name": "DDB2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33276309", "32530099", "32239545", "32228487" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "xeroderma pigmentosum group E MONDO:0010213" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "XPAC", "XP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12814", "gene_name": "XPA, DNA damage recognition and repair factor", "omim_gene": [ "611153" ], "alias_name": null, "gene_symbol": "XPA", "hgnc_symbol": "XPA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:100437191-100459639", "ensembl_id": "ENSG00000136936" } }, "GRch38": { "90": { "location": "9:97674909-97697357", "ensembl_id": "ENSG00000136936" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "XPA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "2234061", "1372102" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "xeroderma pigmentosum group A MONDO:0010210" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney 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"alias": [ "XAP101", "dyskerin", "NAP57", "NOLA4", "Cbf5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2890", "gene_name": "dyskerin pseudouridine synthase 1", "omim_gene": [ "300126" ], "alias_name": [ "H/ACA ribonucleoprotein complex subunit 4" ], "gene_symbol": "DKC1", "hgnc_symbol": "DKC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:153991031-154005964", "ensembl_id": "ENSG00000130826" } }, "GRch38": { "90": { "location": "X:154762742-154777689", "ensembl_id": "ENSG00000130826" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "DKC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31269755", "26951492", "29081935", "25940403" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "dyskeratosis congenita, X-linked MONDO:0010584" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "XPCC", "RAD4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12816", "gene_name": "XPC complex subunit, DNA damage recognition and repair factor", "omim_gene": [ "613208" ], "alias_name": [ "xeroderma pigmentosum group C protein" ], "gene_symbol": "XPC", "hgnc_symbol": "XPC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:14186647-14220283", "ensembl_id": "ENSG00000154767" } }, "GRch38": { "90": { "location": "3:14145147-14178783", "ensembl_id": "ENSG00000154767" } } }, "hgnc_date_symbol_changed": "1992-10-05" }, "entity_type": "gene", "entity_name": "XPC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10447254" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "xeroderma pigmentosum group C MONDO:0010211" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ADAR1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:225", "gene_name": "adenosine deaminase, RNA specific", "omim_gene": [ "146920" ], "alias_name": null, "gene_symbol": "ADAR", "hgnc_symbol": "ADAR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:154554538-154600475", "ensembl_id": "ENSG00000160710" } }, "GRch38": { "90": { "location": "1:154582062-154627999", "ensembl_id": "ENSG00000160710" } } }, "hgnc_date_symbol_changed": "1995-12-12" }, "entity_type": "gene", "entity_name": "ADAR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28561207", "25982145", "24262145", "37770123", "32911246", "18705826" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "ADAR-related type 1 interferonopathy MONDO:0700261" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa 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"protein_coding", "hgnc_id": "HGNC:14377", "gene_name": "NHP2 ribonucleoprotein", "omim_gene": [ "606470" ], "alias_name": null, "gene_symbol": "NHP2", "hgnc_symbol": "NHP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:177576461-177580968", "ensembl_id": "ENSG00000145912" } }, "GRch38": { "90": { "location": "5:178149460-178153967", "ensembl_id": "ENSG00000145912" } } }, "hgnc_date_symbol_changed": "2008-10-13" }, "entity_type": "gene", "entity_name": "NHP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "18523010", "31985013" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "dyskeratosis congenita, autosomal recessive 2 MONDO:0013519" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological 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"29336782" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "amyloidosis, primary localized cutaneous, 3 MONDO:0054765" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PEN2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30100", "gene_name": "presenilin enhancer gamma-secretase subunit", "omim_gene": [ "607632" ], "alias_name": null, "gene_symbol": "PSENEN", "hgnc_symbol": "PSENEN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:36236015-36237911", "ensembl_id": "ENSG00000205155" } }, "GRch38": { "90": { "location": "19:35745114-35747519", "ensembl_id": "ENSG00000205155" } } }, "hgnc_date_symbol_changed": "2005-02-08" }, "entity_type": "gene", "entity_name": "PSENEN", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20929727", "21412258", "27900998" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Dowling-Degos disease MONDO:0008371" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MDS010", "MGC32995", "9630046K23Rik", "MDSRP", "hCLP46", "KDELCL1", "Rumi" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22954", "gene_name": "protein O-glucosyltransferase 1", "omim_gene": [ "615618" ], "alias_name": [ "KDELC family like 1" ], "gene_symbol": "POGLUT1", "hgnc_symbol": "POGLUT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:119187785-119213555", "ensembl_id": "ENSG00000163389" } }, "GRch38": { "90": { "location": "3:119468938-119494708", "ensembl_id": "ENSG00000163389" } } }, "hgnc_date_symbol_changed": "2010-09-29" }, "entity_type": "gene", "entity_name": "POGLUT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24387993" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Dowling-Degos disease MONDO:0008371" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "O-FUT", "O-Fuc-T", "KIAA0180", "FUT12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14988", "gene_name": "protein O-fucosyltransferase 1", "omim_gene": [ "607491" ], "alias_name": [ "peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1" ], "gene_symbol": "POFUT1", "hgnc_symbol": "POFUT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:30795683-30826470", "ensembl_id": "ENSG00000101346" } }, "GRch38": { "90": { "location": "20:32207880-32238667", "ensembl_id": "ENSG00000101346" } } }, "hgnc_date_symbol_changed": "2001-10-29" }, "entity_type": "gene", "entity_name": "POFUT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23684010", "29452367", "25157627" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Dowling-Degos disease\tMONDO:0008371" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KRT5A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6442", "gene_name": "keratin 5", "omim_gene": [ "148040" ], "alias_name": null, "gene_symbol": "KRT5", "hgnc_symbol": "KRT5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:52908359-52914471", "ensembl_id": "ENSG00000186081" } }, "GRch38": { "90": { "location": "12:52514575-52520687", "ensembl_id": "ENSG00000186081" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16465624" ], "evidence": [ "Expert Review Green", "Expert list", "Victorian Clinical Genetics 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"2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10385", "TCAB1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25522", "gene_name": "WD repeat containing antisense to TP53", "omim_gene": [ "612661" ], "alias_name": [ "telomerase cajal body protein 1", "WD-encoding RNA antisense to p53" ], "gene_symbol": "WRAP53", "hgnc_symbol": "WRAP53", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:7589389-7606820", "ensembl_id": "ENSG00000141499" } }, "GRch38": { "90": { "location": "17:7686071-7703502", "ensembl_id": 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], "phenotypes": [ "Waardenburg syndrome type 4A MONDO:0010192" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HUP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8617", "gene_name": "paired box 3", "omim_gene": [ "606597" ], "alias_name": null, "gene_symbol": "PAX3", "hgnc_symbol": "PAX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:223064607-223163715", "ensembl_id": "ENSG00000135903" } }, "GRch38": { "90": { "location": "2:222199888-222298996", "ensembl_id": "ENSG00000135903" } } }, "hgnc_date_symbol_changed": "1992-01-14" }, 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}, { "gene_data": { "alias": [ "SLUGH1", "SNAIL2", "SLUGH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11094", "gene_name": "snail family transcriptional repressor 2", "omim_gene": [ "602150" ], "alias_name": null, "gene_symbol": "SNAI2", "hgnc_symbol": "SNAI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:49830249-49834299", "ensembl_id": "ENSG00000019549" } }, "GRch38": { "90": { "location": "8:48917768-48921740", "ensembl_id": "ENSG00000019549" } } }, "hgnc_date_symbol_changed": "2002-02-28" }, "entity_type": "gene", "entity_name": "SNAI2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "12444107", "30936914", "12955764", "24443330" ], "evidence": [ "Expert Review Amber", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "piebaldism MONDO:0008244", "Waardenburg syndrome type 2D MONDO:0012144" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or 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0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MI", "bHLHe32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7105", "gene_name": "melanogenesis associated transcription factor", "omim_gene": [ "156845" ], "alias_name": [ "homolog of mouse microphthalmia" ], "gene_symbol": "MITF", "hgnc_symbol": "MITF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:69788586-70017488", "ensembl_id": "ENSG00000187098" } }, "GRch38": { "90": { "location": "3:69739435-69968337", "ensembl_id": "ENSG00000187098" } } }, "hgnc_date_symbol_changed": "1993-10-27" }, "entity_type": "gene", "entity_name": "MITF", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7874167", "23512835", "27759048", "28356565" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Waardenburg syndrome type 2A MONDO:0008671" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate 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universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CNC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9388", "gene_name": "protein kinase cAMP-dependent type I regulatory subunit alpha", "omim_gene": [ "188830" ], "alias_name": [ "Carney complex type 1" ], "gene_symbol": "PRKAR1A", "hgnc_symbol": "PRKAR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:66507921-66547460", "ensembl_id": "ENSG00000108946" } }, "GRch38": { "90": { "location": "17:68511780-68551319", "ensembl_id": "ENSG00000108946" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "PRKAR1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "10973256", "11115848", "12424709", "21651393" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Carney complex, type 1\tMONDO:0008057" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "kuz", "MADM", "HsT18717", "CD156c" ], "biotype": "protein_coding", "hgnc_id": "HGNC:188", "gene_name": "ADAM metallopeptidase domain 10", "omim_gene": [ "602192" ], "alias_name": null, "gene_symbol": "ADAM10", "hgnc_symbol": "ADAM10", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:58887403-59042177", "ensembl_id": "ENSG00000137845" } }, "GRch38": { "90": { "location": "15:58588807-58749978", "ensembl_id": "ENSG00000137845" } } }, "hgnc_date_symbol_changed": "1997-03-21" }, "entity_type": "gene", "entity_name": "ADAM10", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23666529", "30488468" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "reticulate acropigmentation of Kitamura MONDO:0014234" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4457, "hash_id": null, "name": "Hereditary Pigmentary Disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum", "status": "public", "version": "1.5", "version_created": "2026-01-02T16:51:24.217185+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 41, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ13063" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25781", "gene_name": "armadillo repeat containing 5", "omim_gene": [ "615549" ], "alias_name": null, "gene_symbol": "ARMC5", "hgnc_symbol": "ARMC5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:31469401-31478487", "ensembl_id": "ENSG00000140691" } }, "GRch38": { "90": { "location": "16:31458080-31467166", "ensembl_id": "ENSG00000140691" } } }, "hgnc_date_symbol_changed": "2004-06-29" }, "entity_type": "gene", "entity_name": "ARMC5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39910635, 41042544, 25853793, 24283224, 24601692, 24708098, 24905064, 39006359, 32097969" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "ACTH-independent macronodular adrenal hyperplasia 2, MONDO:0014416" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4488, "hash_id": null, "name": "Primary nodular adrenocortical disease", "disease_group": "Endocrine disorders; Cancer Predisposition", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.", "status": "public", "version": "0.15", "version_created": "2026-02-02T07:59:54.010712+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PKACa" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9380", "gene_name": "protein kinase cAMP-activated catalytic subunit alpha", "omim_gene": [ "601639" ], "alias_name": null, "gene_symbol": "PRKACA", "hgnc_symbol": "PRKACA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:14202500-14228896", "ensembl_id": "ENSG00000072062" } }, "GRch38": { "90": { "location": "19:14091688-14118084", "ensembl_id": "ENSG00000072062" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PRKACA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "24571724, 25924874, 40066253, 37988664, 39006359" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pigmented nodular adrenocortical disease, primary, 4, MONDO:0014359" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4488, "hash_id": null, "name": "Primary nodular adrenocortical disease", "disease_group": "Endocrine disorders; Cancer Predisposition", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.", "status": "public", "version": "0.15", "version_created": "2026-02-02T07:59:54.010712+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8794", "gene_name": "phosphodiesterase 8B", "omim_gene": [ "603390" ], "alias_name": null, "gene_symbol": "PDE8B", "hgnc_symbol": "PDE8B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:76506274-76725632", "ensembl_id": "ENSG00000113231" } }, "GRch38": { "90": { "location": "5:77210449-77429807", "ensembl_id": "ENSG00000113231" } } }, "hgnc_date_symbol_changed": "1998-11-30" }, "entity_type": "gene", "entity_name": "PDE8B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39006359, 32097969, 18272904, 25971952, 22335482, 18431404" ], "evidence": [ "Expert Review Green", "Expert List" ], "phenotypes": [ "Pigmented nodular adrenocortical disease, primary, 3, MONDO:0013616" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4488, "hash_id": null, "name": "Primary nodular adrenocortical disease", "disease_group": "Endocrine disorders; Cancer Predisposition", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.", "status": "public", "version": "0.15", "version_created": "2026-02-02T07:59:54.010712+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8773", "gene_name": "phosphodiesterase 11A", "omim_gene": [ "604961" ], "alias_name": null, "gene_symbol": "PDE11A", "hgnc_symbol": "PDE11A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:178487980-178973066", "ensembl_id": "ENSG00000128655" } }, "GRch38": { "90": { "location": "2:177623252-178072755", "ensembl_id": "ENSG00000128655" } } }, "hgnc_date_symbol_changed": "2000-06-09" }, "entity_type": "gene", "entity_name": "PDE11A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39006359, 16767104, 20351491, 18491255, 18559625, 32097969" ], "evidence": [ "Expert Review Green", "Expert List" ], "phenotypes": [ "Pigmented nodular adrenocortical disease, primary, 2, MONDO:0012505" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4488, "hash_id": null, "name": "Primary nodular adrenocortical disease", "disease_group": "Endocrine disorders; Cancer Predisposition", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.", "status": "public", "version": "0.15", "version_created": "2026-02-02T07:59:54.010712+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CNC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9388", "gene_name": "protein kinase cAMP-dependent type I regulatory subunit alpha", "omim_gene": [ "188830" ], "alias_name": [ "Carney complex type 1" ], "gene_symbol": "PRKAR1A", "hgnc_symbol": "PRKAR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:66507921-66547460", "ensembl_id": "ENSG00000108946" } }, "GRch38": { "90": { "location": "17:68511780-68551319", "ensembl_id": "ENSG00000108946" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "PRKAR1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39006359, 12213893, 40066253, 39355138, 11115848" ], "evidence": [ "Expert Review Green", "Expert List" ], "phenotypes": [ "Pigmented nodular adrenocortical disease, primary, 1, MONDO:0012509", "Carney complex type 1, MONDO:0008057" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4488, "hash_id": null, "name": "Primary nodular adrenocortical disease", "disease_group": "Endocrine disorders; Cancer Predisposition", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.", "status": "public", "version": "0.15", "version_created": "2026-02-02T07:59:54.010712+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0601", "BHC110", "LSD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29079", "gene_name": "lysine demethylase 1A", "omim_gene": [ "609132" ], "alias_name": null, "gene_symbol": "KDM1A", "hgnc_symbol": "KDM1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:23345941-23410182", "ensembl_id": "ENSG00000004487" } }, "GRch38": { "90": { "location": "1:23019448-23083689", "ensembl_id": "ENSG00000004487" } } }, "hgnc_date_symbol_changed": "2009-09-29" }, "entity_type": "gene", "entity_name": "KDM1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34655521, 34906447" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "ACTH-independent macronodular adrenal hyperplasia 3, MONDO:0700299" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4488, "hash_id": null, "name": "Primary nodular adrenocortical disease", "disease_group": "Endocrine disorders; Cancer Predisposition", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with primary pigmented nodular adrenocortical disease and ACTH-independent macronodular adrenal hyperplasia.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.", "status": "public", "version": "0.15", "version_created": "2026-02-02T07:59:54.010712+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DMC1", "HID-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15736", "gene_name": "HID1 domain containing", "omim_gene": [ "605752" ], "alias_name": [ "downregulated in multiple cancer 1" ], "gene_symbol": "HID1", "hgnc_symbol": "HID1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:72946838-72969261", "ensembl_id": "ENSG00000167861" } }, "GRch38": { "90": { "location": "17:74950743-74973166", "ensembl_id": "ENSG00000167861" } } }, "hgnc_date_symbol_changed": "2012-10-10" }, "entity_type": "gene", "entity_name": "HID1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33999436" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "LEAP-1", "HEPC", "HFE2B", "LEAP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15598", "gene_name": "hepcidin antimicrobial peptide", "omim_gene": [ "606464" ], "alias_name": null, "gene_symbol": "HAMP", "hgnc_symbol": "HAMP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:35771619-35776046", "ensembl_id": "ENSG00000105697" } }, "GRch38": { "90": { "location": "19:35280716-35285143", "ensembl_id": "ENSG00000105697" } } }, "hgnc_date_symbol_changed": "2001-05-29" }, "entity_type": "gene", "entity_name": "HAMP", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12469120", "34828384", "15198949" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Haemochromatosis, type 2B, MIM# 613313" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RPX", "ANF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4877", "gene_name": "HESX homeobox 1", "omim_gene": [ "601802" ], "alias_name": null, "gene_symbol": "HESX1", "hgnc_symbol": "HESX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:57231944-57260549", "ensembl_id": "ENSG00000163666" } }, "GRch38": { "90": { "location": "3:57197843-57226521", "ensembl_id": "ENSG00000163666" } } }, "hgnc_date_symbol_changed": "1998-11-19" }, "entity_type": "gene", "entity_name": "HESX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14561704", "26781211", "11136712", "16940453" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Growth hormone deficiency with pituitary anomalies (182230)", "Pituitary hormone deficiency, combined, 5 (182230)" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TRNS2", "RP8" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7498", "gene_name": "mitochondrially encoded tRNA serine 2 (AGU/C)", "omim_gene": [ "590085" ], "alias_name": null, "gene_symbol": "MT-TS2", "hgnc_symbol": "MT-TS2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:12207-12265", "ensembl_id": "ENSG00000210184" } }, "GRch38": { "90": { "location": "MT:12207-12265", "ensembl_id": "ENSG00000210184" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TS2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "9792552", "10090882", "16950817", "21257182", "22369973", "22378285" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list" ], "phenotypes": [ "Mitochondrial disease (MONDO:0044970), MT-TS2-related" ], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [ "mtDNA" ], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PSD-93", "PSD93", "chapsyn-110", "PPP1R58" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2901", "gene_name": "discs large MAGUK scaffold protein 2", "omim_gene": [ "603583" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 58" ], "gene_symbol": "DLG2", "hgnc_symbol": "DLG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:83166055-85338966", "ensembl_id": "ENSG00000150672" } }, "GRch38": { "90": { "location": "11:83455012-85627922", "ensembl_id": "ENSG00000150672" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "DLG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32341572" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "delayed puberty, self-limited, MONDO:0859205" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "SV/CNV" ], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HLA-H" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4886", "gene_name": "hemochromatosis", "omim_gene": [ "613609" ], "alias_name": [ "high Fe" ], "gene_symbol": "HFE", "hgnc_symbol": "HFE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:26087509-26098571", "ensembl_id": "ENSG00000010704" } }, "GRch38": { "90": { "location": "6:26087281-26098343", "ensembl_id": "ENSG00000010704" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "HFE", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Haemochromatosis, MIM# 235200" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PAP-A", "PAPA", "PAPA1", "PAPB", "ACLS", "PPDIV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4319", "gene_name": "GLI family zinc finger 3", "omim_gene": [ "165240" ], "alias_name": [ "zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein" ], "gene_symbol": "GLI3", "hgnc_symbol": "GLI3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:42000548-42277469", "ensembl_id": "ENSG00000106571" } }, "GRch38": { "90": { "location": "7:41960950-42237870", "ensembl_id": "ENSG00000106571" } } }, "hgnc_date_symbol_changed": "1989-05-29" }, "entity_type": "gene", "entity_name": "GLI3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24736735", "15739154" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Genomics England PanelApp", "Genomics England PanelApp" ], "phenotypes": [ "Greig cephalopolysyndactyly syndrome (175700)", "Pallister-Hall syndrome (146510)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "THP2", "HPE9", "THP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4318", "gene_name": "GLI family zinc finger 2", "omim_gene": [ "165230" ], "alias_name": [ "tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2" ], "gene_symbol": "GLI2", "hgnc_symbol": "GLI2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:121493199-121750229", "ensembl_id": "ENSG00000074047" } }, "GRch38": { "90": { "location": "2:120735623-120992653", "ensembl_id": "ENSG00000074047" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "GLI2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14581620", "25878059" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Culler-Jones syndrome (615849)", "Holoprosencephaly 9 (610829)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3964", "gene_name": "follicle stimulating hormone beta subunit", "omim_gene": [ "136530" ], "alias_name": [ "follitropin, beta chain" ], "gene_symbol": "FSHB", "hgnc_symbol": "FSHB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:30252563-30256808", "ensembl_id": "ENSG00000131808" } }, "GRch38": { "90": { "location": "11:30231016-30235261", "ensembl_id": "ENSG00000131808" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "FSHB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8220432", "9280841", "9624193", "9806482", "9271483", "16630814" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 24 without anosmia, MIM#229070" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5022", "gene_name": "forkhead box A2", "omim_gene": [ "600288" ], "alias_name": null, "gene_symbol": "FOXA2", "hgnc_symbol": "FOXA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:22561643-22566093", "ensembl_id": "ENSG00000125798" } }, "GRch38": { "90": { "location": "20:22581005-22585455", "ensembl_id": "ENSG00000125798" } } }, "hgnc_date_symbol_changed": "2002-09-20" }, "entity_type": "gene", "entity_name": "FOXA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28973288, 29329447, 30414530, 33729509, 31294511, 33999151" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hypopituitarism, MONDO:0005152", "Hyperinsulinism, MONDO:0002177" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "H2", "H3", "H4", "H5", "CEK", "FLG", "BFGFR", "N-SAM", "CD331" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3688", "gene_name": "fibroblast growth factor receptor 1", "omim_gene": [ "136350" ], "alias_name": [ "Pfeiffer syndrome" ], "gene_symbol": "FGFR1", "hgnc_symbol": "FGFR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:38268656-38326352", "ensembl_id": "ENSG00000077782" } }, "GRch38": { "90": { "location": "8:38411138-38468834", "ensembl_id": "ENSG00000077782" } } }, "hgnc_date_symbol_changed": "1992-02-25" }, "entity_type": "gene", "entity_name": "FGFR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12627230, 18034870, 16606836, 15001591" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hypogonadotropic hypogonadism 2 with or without anosmia 147950" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AIGF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3686", "gene_name": "fibroblast growth factor 8", "omim_gene": [ "600483" ], "alias_name": [ "androgen-induced growth factor" ], "gene_symbol": "FGF8", "hgnc_symbol": "FGF8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:103529899-103535854", "ensembl_id": "ENSG00000107831" } }, "GRch38": { "90": { "location": "10:101770130-101780369", "ensembl_id": "ENSG00000107831" } } }, "hgnc_date_symbol_changed": "1995-08-15" }, "entity_type": "gene", "entity_name": "FGF8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22319038", "21832120", "20463092" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 6 with or without anosmia (612702)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FGF-13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3673", "gene_name": "fibroblast growth factor 17", "omim_gene": [ "603725" ], "alias_name": null, "gene_symbol": "FGF17", "hgnc_symbol": "FGF17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:21899909-21906320", "ensembl_id": "ENSG00000158815" } }, "GRch38": { "90": { "location": "8:22042398-22048809", "ensembl_id": "ENSG00000158815" } } }, "hgnc_date_symbol_changed": "1998-12-22" }, "entity_type": "gene", "entity_name": "FGF17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23643382", "31748124" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EIF2gamma", "EIF2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3267", "gene_name": "eukaryotic translation initiation factor 2 subunit gamma", "omim_gene": [ "300161" ], "alias_name": [ "eukaryotic translation initiation factor 2G" ], "gene_symbol": "EIF2S3", "hgnc_symbol": "EIF2S3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:24072833-24096088", "ensembl_id": "ENSG00000130741" } }, "GRch38": { "90": { "location": "X:24054716-24077971", "ensembl_id": "ENSG00000130741" } } }, "hgnc_date_symbol_changed": "1994-09-06" }, "entity_type": "gene", "entity_name": "EIF2S3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23063529", "27333055", "28055140", "32799315" ], "evidence": [ "Expert Review Green", "Genetic Health Queensland", "Genetic Health Queensland", "Genetic Health Queensland" ], "phenotypes": [ "MEHMO syndrome, MIM# 300148" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ13096" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25784", "gene_name": "DDB1 and CUL4 associated factor 17", "omim_gene": [ "612515" ], "alias_name": [ "Woodhouse-Sakati syndrome" ], "gene_symbol": "DCAF17", "hgnc_symbol": "DCAF17", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:172290727-172341562", "ensembl_id": "ENSG00000115827" } }, "GRch38": { "90": { "location": "2:171434217-171485052", "ensembl_id": "ENSG00000115827" } } }, "hgnc_date_symbol_changed": "2009-07-17" }, "entity_type": "gene", "entity_name": "DCAF17", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19026396", "20507343", "35002959", "34877714", "34732557", "34590781" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review" ], "phenotypes": [ "Woodhouse-Sakati syndrome, MIM#\t241080" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2555", "gene_name": "cullin 4B", "omim_gene": [ "300304" ], "alias_name": null, "gene_symbol": "CUL4B", "hgnc_symbol": "CUL4B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:119658464-119709649", "ensembl_id": "ENSG00000158290" } }, "GRch38": { "90": { "location": "X:120524609-120575794", "ensembl_id": "ENSG00000158290" } } }, "hgnc_date_symbol_changed": "1998-10-29" }, "entity_type": "gene", "entity_name": "CUL4B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 25385192" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Expert list", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Mental retardation, X-linked, syndromic 15 (Cabezas type)\t300354" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1416", "FLJ20357", "FLJ20361" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20626", "gene_name": "chromodomain helicase DNA binding protein 7", "omim_gene": [ "608892" ], "alias_name": null, "gene_symbol": "CHD7", "hgnc_symbol": "CHD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:61591337-61779465", "ensembl_id": "ENSG00000171316" } }, "GRch38": { "90": { "location": "8:60678778-60868028", "ensembl_id": "ENSG00000171316" } } }, "hgnc_date_symbol_changed": "2004-06-22" }, "entity_type": "gene", "entity_name": "CHD7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29152903", "30733481", "18834967" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hypogonadotropic hypogonadism 5 with or without anosmia (612370)", "CHARGE syndrome (214800)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1071", "gene_name": "bone morphogenetic protein 4", "omim_gene": [ "112262" ], "alias_name": null, "gene_symbol": "BMP4", "hgnc_symbol": "BMP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:54416454-54425479", "ensembl_id": "ENSG00000125378" } }, "GRch38": { "90": { "location": "14:53949736-53958761", "ensembl_id": "ENSG00000125378" } } }, "hgnc_date_symbol_changed": "1990-06-11" }, "entity_type": "gene", "entity_name": "BMP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31120642, 24289245, 18252212, 35633847" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Microphthalmia, syndromic 6, MIM#607932" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GRF-1", "p190ARhoGAP", "P190A", "KIAA1722", "p190RhoGAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4591", "gene_name": "Rho GTPase activating protein 35", "omim_gene": [ "605277" ], "alias_name": null, "gene_symbol": "ARHGAP35", "hgnc_symbol": "ARHGAP35", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:47421933-47508334", "ensembl_id": "ENSG00000160007" } }, "GRch38": { "90": { "location": "19:46918676-47005077", "ensembl_id": "ENSG00000160007" } } }, "hgnc_date_symbol_changed": "2011-06-07" }, "entity_type": "gene", "entity_name": "ARHGAP35", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36178483" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism, MONDO:0015770, ARHGAP35-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KALIG-1", "WFDC19" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6211", "gene_name": "anosmin 1", "omim_gene": [ "300836" ], "alias_name": [ "anosmin-1", "WAP four-disulfide core domain 19", "Adhesion molecule-like, X-linked", "Kallmann syndrome interval gene 1" ], "gene_symbol": "ANOS1", "hgnc_symbol": "ANOS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:8496915-8700227", "ensembl_id": "ENSG00000011201" } }, "GRch38": { "90": { "location": "X:8528874-8732186", "ensembl_id": "ENSG00000011201" } } }, "hgnc_date_symbol_changed": "2015-04-10" }, "entity_type": "gene", "entity_name": "ANOS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "1594017", "8504298", "8989261" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TTF-1", "TTF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11825", "gene_name": "NK2 homeobox 1", "omim_gene": [ "600635" ], "alias_name": null, "gene_symbol": "NKX2-1", "hgnc_symbol": "NKX2-1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:36985602-36990354", "ensembl_id": "ENSG00000136352" } }, "GRch38": { "90": { "location": "14:36516392-36521149", "ensembl_id": "ENSG00000136352" } } }, "hgnc_date_symbol_changed": "2007-07-26" }, "entity_type": "gene", "entity_name": "NKX2-1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10931427", "27066577", "26839702", "26103969", "33270637", "30186310" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Royal Melbourne Hospital" ], "phenotypes": [ "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RhoGAP5", "p190-B", "p190BRhoGAP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:675", "gene_name": "Rho GTPase activating protein 5", "omim_gene": [ "602680" ], "alias_name": null, "gene_symbol": "ARHGAP5", "hgnc_symbol": "ARHGAP5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:32545320-32628934", "ensembl_id": "ENSG00000100852" } }, "GRch38": { "90": { "location": "14:32076114-32159728", "ensembl_id": "ENSG00000100852" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "ARHGAP5", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39308770", "36178483" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Kallmann syndrome MONDO:0018800" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11191", "gene_name": "SRY-box 11", "omim_gene": [ "600898" ], "alias_name": [ "SRY-related HMG-box gene 11" ], "gene_symbol": "SOX11", "hgnc_symbol": "SOX11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:5832799-5841516", "ensembl_id": "ENSG00000176887" } }, "GRch38": { "90": { "location": "2:5692667-5701385", "ensembl_id": "ENSG00000176887" } } }, "hgnc_date_symbol_changed": "1995-06-08" }, "entity_type": "gene", "entity_name": "SOX11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29459093", "24886874", "33086258", "33785884", "35642566", "35341651" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review" ], "phenotypes": [ "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:22788", "gene_name": "FEZ family zinc finger 1", "omim_gene": [ "613301" ], "alias_name": null, "gene_symbol": "FEZF1", "hgnc_symbol": "FEZF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:121941448-121950745", "ensembl_id": "ENSG00000128610" } }, "GRch38": { "90": { "location": "7:122301394-122310691", "ensembl_id": "ENSG00000128610" } } }, "hgnc_date_symbol_changed": "2006-08-15" }, "entity_type": "gene", "entity_name": "FEZF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25192046", "32400067" ], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Amber" ], "phenotypes": [ "Hypogonadotropic hypogonadism 22, with or without anosmia 616030" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SEF", "IL17RLM", "FLJ35755", "IL-17RD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17616", "gene_name": "interleukin 17 receptor D", "omim_gene": [ "606807" ], "alias_name": null, "gene_symbol": "IL17RD", "hgnc_symbol": "IL17RD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:57124010-57204334", "ensembl_id": "ENSG00000144730" } }, "GRch38": { "90": { "location": "3:57089982-57170306", "ensembl_id": "ENSG00000144730" } } }, "hgnc_date_symbol_changed": "2003-07-07" }, "entity_type": "gene", "entity_name": "IL17RD", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23643382", "32389901" ], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Red", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ23191" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26256", "gene_name": "neuron derived neurotrophic factor", "omim_gene": [ "616506" ], "alias_name": null, "gene_symbol": "NDNF", "hgnc_symbol": "NDNF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:121956768-121994176", "ensembl_id": "ENSG00000173376" } }, "GRch38": { "90": { "location": "4:121035613-121073021", "ensembl_id": "ENSG00000173376" } } }, "hgnc_date_symbol_changed": "2011-07-05" }, "entity_type": "gene", "entity_name": "NDNF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31883645", "40788466", "36454653" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism 25 with anosmia MIM#618841" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6341", "gene_name": "KiSS-1 metastasis-suppressor", "omim_gene": [ "603286" ], "alias_name": [ "prepro-kisspeptin", "kisspeptin" ], "gene_symbol": "KISS1", "hgnc_symbol": "KISS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:204159469-204165614", "ensembl_id": "ENSG00000170498" } }, "GRch38": { "90": { "location": "1:204190341-204196486", "ensembl_id": "ENSG00000170498" } } }, "hgnc_date_symbol_changed": "1998-05-18" }, "entity_type": "gene", "entity_name": "KISS1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "22335740", "25783047", "22766261", "17563351" ], "evidence": [ "Expert list", "Expert Review Amber", "Expert Review Amber", "Expert list" ], "phenotypes": [ "Hypogonadotropic hypogonadism 13 with or without anosmia, MIM#\t614842" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:13998", "gene_name": "PR/SET domain 13", "omim_gene": [ "616741" ], "alias_name": null, "gene_symbol": "PRDM13", "hgnc_symbol": "PRDM13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:100054606-100063454", "ensembl_id": "ENSG00000112238" } }, "GRch38": { "90": { "location": "6:99606730-99615578", "ensembl_id": "ENSG00000112238" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "PRDM13", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34730112" ], "evidence": [ "Literature", "Expert Review Amber", "Expert Review Amber", "Literature" ], "phenotypes": [ "Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "founder" ], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18662", "gene_name": "retina and anterior neural fold homeobox", "omim_gene": [ "601881" ], "alias_name": null, "gene_symbol": "RAX", "hgnc_symbol": "RAX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:56934267-56941318", "ensembl_id": "ENSG00000134438" } }, "GRch38": { "90": { "location": "18:59267035-59274086", "ensembl_id": "ENSG00000134438" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "RAX", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30811539, 40321348" ], "evidence": [ "Literature", "Expert Review Amber", "Expert Review Amber", "Literature" ], "phenotypes": [ "Microphthalmia, syndromic 16, MIM#611038" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ12571", "dyf-13", "DYF13", "IFT56" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21882", "gene_name": "tetratricopeptide repeat domain 26", "omim_gene": [ "617453" ], "alias_name": null, "gene_symbol": "TTC26", "hgnc_symbol": "TTC26", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:138818490-138876732", "ensembl_id": "ENSG00000105948" } }, "GRch38": { "90": { "location": "7:139133744-139191986", "ensembl_id": "ENSG00000105948" } } }, "hgnc_date_symbol_changed": "2006-03-17" }, "entity_type": "gene", "entity_name": "TTC26", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32617964" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "biliary, renal, neurologic, and skeletal syndrome, MONDO:0859191" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10377" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21863", "gene_name": "RNA binding motif protein 28", "omim_gene": [ "612074" ], "alias_name": null, "gene_symbol": "RBM28", "hgnc_symbol": "RBM28", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:127937738-127983962", "ensembl_id": "ENSG00000106344" } }, "GRch38": { "90": { "location": "7:128297685-128343908", "ensembl_id": "ENSG00000106344" } } }, "hgnc_date_symbol_changed": "2004-06-03" }, "entity_type": "gene", "entity_name": "RBM28", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "20231366", "18439547", "33941690" ], "evidence": [ "Genomics England PanelApp", "Expert Review Amber", "Expert Review Amber" ], "phenotypes": [ "ANE syndrome", "Alopecia, neurologic defects, and endocrinopathy syndrome (612079)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15533", "gene_name": "sprouty RTK signaling antagonist 4", "omim_gene": [ "607984" ], "alias_name": null, "gene_symbol": "SPRY4", "hgnc_symbol": "SPRY4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:141689992-141706020", "ensembl_id": "ENSG00000187678" } }, "GRch38": { "90": { "location": "5:142310427-142326455", "ensembl_id": "ENSG00000187678" } } }, "hgnc_date_symbol_changed": "2002-01-22" }, "entity_type": "gene", "entity_name": "SPRY4", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23643382" ], "evidence": [ "Expert list", "Expert Review Amber", "Expert Review Amber", "Expert list" ], "phenotypes": [ "Hypogonadotropic hypogonadism 17 with or without anosmia, MIM#\t615266" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "disputed" ], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NOV" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9099", "gene_name": "plexin A1", "omim_gene": [ "601055" ], "alias_name": null, "gene_symbol": "PLXNA1", "hgnc_symbol": "PLXNA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:126707437-126756235", "ensembl_id": "ENSG00000114554" } }, "GRch38": { "90": { "location": "3:126988594-127037392", "ensembl_id": "ENSG00000114554" } } }, "hgnc_date_symbol_changed": "1998-08-13" }, "entity_type": "gene", "entity_name": "PLXNA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28334861", "30467832", "34636164" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism MONDO:0018555, PLXNA1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0307", "bHLHe1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16876", "gene_name": "aryl hydrocarbon receptor nuclear translocator 2", "omim_gene": [ "606036" ], "alias_name": null, "gene_symbol": "ARNT2", "hgnc_symbol": "ARNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:80696692-80890278", "ensembl_id": "ENSG00000172379" } }, "GRch38": { "90": { "location": "15:80404350-80597937", "ensembl_id": "ENSG00000172379" } } }, "hgnc_date_symbol_changed": "2001-12-05" }, "entity_type": "gene", "entity_name": "ARNT2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24022475, 11381139" ], "evidence": [ "Genetic Health Queensland", "Genomics England PanelApp", "Literature", "Expert Review Amber", "Expert Review Amber", "Expert Review Amber", "Literature", "Genetic Health Queensland" ], "phenotypes": [ "Webb-Dattani syndrome 615926" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VEGF165R2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8005", "gene_name": "neuropilin 2", "omim_gene": [ "602070" ], "alias_name": null, "gene_symbol": "NRP2", "hgnc_symbol": "NRP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:206546714-206662857", "ensembl_id": "ENSG00000118257" } }, "GRch38": { "90": { "location": "2:205681990-205798133", "ensembl_id": "ENSG00000118257" } } }, "hgnc_date_symbol_changed": "1998-12-23" }, "entity_type": "gene", "entity_name": "NRP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34636164", "28334861" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism, MONDO:0018555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ39502", "CAMDI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26821", "gene_name": "coiled-coil domain containing 141", "omim_gene": [ "616031" ], "alias_name": [ "coiled-coil protein associated with myosin II and DISC1" ], "gene_symbol": "CCDC141", "hgnc_symbol": "CCDC141", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:179694484-179914813", "ensembl_id": "ENSG00000163492" } }, "GRch38": { "90": { "location": "2:178830269-179050086", "ensembl_id": "ENSG00000163492" } } }, "hgnc_date_symbol_changed": "2007-07-10" }, "entity_type": "gene", "entity_name": "CCDC141", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "251920460", "28324054", "32520725", "27014940" ], "evidence": [ "Expert Review", "Expert Review Amber", "Expert Review Amber", "Expert Review" ], "phenotypes": [ "congenital hypogonadotropic hypogonadism, MONDO:0015770, CCDC141-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2084", "gene_name": "caseinolytic mitochondrial matrix peptidase proteolytic subunit", "omim_gene": [ "601119" ], "alias_name": [ "ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human" ], "gene_symbol": "CLPP", "hgnc_symbol": "CLPP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:6361463-6368919", "ensembl_id": "ENSG00000125656" } }, "GRch38": { "90": { "location": "19:6361452-6368908", "ensembl_id": "ENSG00000125656" } } }, "hgnc_date_symbol_changed": "1999-09-20" }, "entity_type": "gene", "entity_name": "CLPP", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23541340", "25956234", "26970254", "27087618", "27650058", "27650058", "27899912" ], "evidence": [ "Expert Review", "Expert Review Amber", "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Perrault syndrome 3, MIM# 614129" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NRP", "VEGF165R", "CD304" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8004", "gene_name": "neuropilin 1", "omim_gene": [ "602069" ], "alias_name": null, "gene_symbol": "NRP1", "hgnc_symbol": "NRP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:33466420-33625190", "ensembl_id": "ENSG00000099250" } }, "GRch38": { "90": { "location": "10:33177492-33336262", "ensembl_id": "ENSG00000099250" } } }, "hgnc_date_symbol_changed": "1998-12-23" }, "entity_type": "gene", "entity_name": "NRP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34636164", "28334861" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "Hypogonadotropic hypogonadism MONDO:0018555" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ21918" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26152", "gene_name": "epithelial splicing regulatory protein 2", "omim_gene": [ "612960" ], "alias_name": null, "gene_symbol": "ESRP2", "hgnc_symbol": "ESRP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:68263014-68272005", "ensembl_id": "ENSG00000103067" } }, "GRch38": { "90": { "location": "16:68229111-68238102", "ensembl_id": "ENSG00000103067" } } }, "hgnc_date_symbol_changed": "2009-03-10" }, "entity_type": "gene", "entity_name": "ESRP2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29805042" ], "evidence": [ "Expert list", "Expert Review Amber", "Expert Review Amber", "Expert list" ], "phenotypes": [ "Cleft palate, MONDO:0016064", "Hypopituitarism MONDO:0005152" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "M-SemaK", "KIAA0331", "coll-5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10727", "gene_name": "semaphorin 3E", "omim_gene": [ "608166" ], "alias_name": [ "M-sema H" ], "gene_symbol": "SEMA3E", "hgnc_symbol": "SEMA3E", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:82993222-83278326", "ensembl_id": "ENSG00000170381" } }, "GRch38": { "90": { "location": "7:83363906-83649010", "ensembl_id": "ENSG00000170381" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "SEMA3E", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25985275" ], "evidence": [ "Expert Review", "Expert Review Red", "Expert Review" ], "phenotypes": [ "?CHARGE syndrome (MIM#214800)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:29843", "gene_name": "NMDA receptor synaptonuclear signaling and neuronal migration factor", "omim_gene": [ "608137" ], "alias_name": null, "gene_symbol": "NSMF", "hgnc_symbol": "NSMF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:140342022-140353786", "ensembl_id": "ENSG00000165802" } }, "GRch38": { "90": { "location": "9:137447573-137459334", "ensembl_id": "ENSG00000165802" } } }, "hgnc_date_symbol_changed": "2013-01-14" }, "entity_type": "gene", "entity_name": "NSMF", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "15362570", "17235395", "21700882", "31220265", "34348883", "35316923", "39010903", "39809967" ], "evidence": [ "Expert Review Red", "Expert list", "Expert list" ], "phenotypes": [ "Hypogonadotropic hypogonadism 9 with or without anosmia, MIM#\t614838" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NSCL2", "bHLHa34" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7818", "gene_name": "nescient helix-loop-helix 2", "omim_gene": [ "162361" ], "alias_name": null, "gene_symbol": "NHLH2", "hgnc_symbol": "NHLH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:116378998-116386538", "ensembl_id": "ENSG00000177551" } }, "GRch38": { "90": { "location": "1:115836377-115843917", "ensembl_id": "ENSG00000177551" } } }, "hgnc_date_symbol_changed": "1992-07-08" }, "entity_type": "gene", "entity_name": "NHLH2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35066646" ], "evidence": [ "Expert Review", "Expert Review Red", "Expert Review Red", "Expert Review" ], "phenotypes": [ "Hypogonadotropic hypogonadism 27 without anosmia , MIM#\t619755" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4521, "hash_id": null, "name": "Hypogonadotropic hypogonadism", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.", "status": "public", "version": "0.111", "version_created": "2026-04-04T15:37:44.052003+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 83, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] } ] }