Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=37
{ "count": 35521, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=38", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=36", "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6530", "gene_name": "lactase", "omim_gene": [ "603202" ], "alias_name": null, "gene_symbol": "LCT", "hgnc_symbol": "LCT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:136545410-136594750", "ensembl_id": "ENSG00000115850" } }, "GRch38": { "90": { "location": "2:135787840-135837180", "ensembl_id": "ENSG00000115850" } } }, "hgnc_date_symbol_changed": "1989-05-29" }, "entity_type": "gene", "entity_name": "LCT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Lactase deficiency, congenital, MIM# 223000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ABL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7467", "gene_name": "microsomal triglyceride transfer protein", "omim_gene": [ "157147" ], "alias_name": null, "gene_symbol": "MTTP", "hgnc_symbol": "MTTP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:100484918-100545156", "ensembl_id": "ENSG00000138823" } }, "GRch38": { "90": { "location": "4:99563761-99623999", "ensembl_id": "ENSG00000138823" } } }, "hgnc_date_symbol_changed": "2005-11-04" }, "entity_type": "gene", "entity_name": "MTTP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17275380" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Abetalipoproteinemia, MIM# 200100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1119" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7603", "gene_name": "myosin VB", "omim_gene": [ "606540" ], "alias_name": null, "gene_symbol": "MYO5B", "hgnc_symbol": "MYO5B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:47349183-47721463", "ensembl_id": "ENSG00000167306" } }, "GRch38": { "90": { "location": "18:49822813-50195093", "ensembl_id": "ENSG00000167306" } } }, "hgnc_date_symbol_changed": "1996-04-04" }, "entity_type": "gene", "entity_name": "MYO5B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30564347", "29266534" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Microvillus inclusion disease, MIM# 251850" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Atoh5", "Math4B", "ngn3", "bHLHa7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13806", "gene_name": "neurogenin 3", "omim_gene": [ "604882" ], "alias_name": null, "gene_symbol": "NEUROG3", "hgnc_symbol": "NEUROG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:71331454-71332994", "ensembl_id": "ENSG00000122859" } }, "GRch38": { "90": { "location": "10:69571698-69573238", "ensembl_id": "ENSG00000122859" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "NEUROG3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16855267", "32574610", "28724572", "21490072" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diarrhoea 4, malabsorptive, congenital, MIM# 610370" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PC1", "PC3", "SPC3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8743", "gene_name": "proprotein convertase subtilisin/kexin type 1", "omim_gene": [ "162150" ], "alias_name": [ "prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1" ], "gene_symbol": "PCSK1", "hgnc_symbol": "PCSK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:95726119-95769847", "ensembl_id": "ENSG00000175426" } }, "GRch38": { "90": { "location": "5:96390415-96434143", "ensembl_id": "ENSG00000175426" } } }, "hgnc_date_symbol_changed": "1991-06-07" }, "entity_type": "gene", "entity_name": "PCSK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "14617756", "17595246" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Obesity with impaired prohormone processing, MIM# 600955" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "gp68", "PV-1", "PV1", "FELS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13635", "gene_name": "plasmalemma vesicle associated protein", "omim_gene": [ "607647" ], "alias_name": [ "fenestrated-endothelial linked structure protein; PV-1 protein" ], "gene_symbol": "PLVAP", "hgnc_symbol": "PLVAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:17462257-17488159", "ensembl_id": "ENSG00000130300" } }, "GRch38": { "90": { "location": "19:17351448-17377350", "ensembl_id": "ENSG00000130300" } } }, "hgnc_date_symbol_changed": "2001-04-27" }, "entity_type": "gene", "entity_name": "PLVAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29875123", "29661969", "26207260", "31215290" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Diarrhoea 10, protein-losing enteropathy type, MIM# 618183" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:9475", "gene_name": "protease, serine 1", "omim_gene": [ "276000" ], "alias_name": null, "gene_symbol": "PRSS1", "hgnc_symbol": "PRSS1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:142457319-142460923", "ensembl_id": "ENSG00000204983" } }, "GRch38": { "90": { "location": "7:142749468-142753076", "ensembl_id": "ENSG00000204983" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "PRSS1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22379635" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Pancreatitis, hereditary, MIM# 167800" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:10535", "gene_name": "secretion associated Ras related GTPase 1B", "omim_gene": [ "607690" ], "alias_name": null, "gene_symbol": "SAR1B", "hgnc_symbol": "SAR1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:133936834-133984961", "ensembl_id": "ENSG00000152700" } }, "GRch38": { "90": { "location": "5:134601144-134649271", "ensembl_id": "ENSG00000152700" } } }, "hgnc_date_symbol_changed": "2005-10-21" }, "entity_type": "gene", "entity_name": "SAR1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Chylomicron retention disease, MIM# 246700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.", "status": "public", "version": "1.30", "version_created": "2025-11-20T10:28:34.792243+11:00", "relevant_disorders": [ "Diarrhea HP:0002014" ], "stats": { "number_of_genes": 46, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CGI-97", "FLJ10917", "SDS", "SWDS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19440", "gene_name": "SBDS, ribosome maturation factor", "omim_gene": [ "607444" ], "alias_name": null, "gene_symbol": "SBDS", "hgnc_symbol": "SBDS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:66452664-66460588", "ensembl_id": "ENSG00000126524" } }, "GRch38": { "90": { "location": "7:66987677-66995601", "ensembl_id": "ENSG00000126524" } } }, "hgnc_date_symbol_changed": "2003-07-02" }, "entity_type": "gene", "entity_name": "SBDS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Shwachman-Diamond syndrome, MIM# 260400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 89, "hash_id": null, "name": "Congenital Diarrhoea", "disease_group": "Gastroenterological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. 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The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.", "status": "public", "version": "1.21", "version_created": "2026-02-22T15:53:37.257206+11:00", "relevant_disorders": [ "Abnormal corneal morphology", "HP:0000481" ], "stats": { "number_of_genes": 33, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6522", "gene_name": "lecithin-cholesterol acyltransferase", "omim_gene": [ "606967" ], "alias_name": [ "phosphatidylcholine--sterol O-acyltransferase" ], "gene_symbol": "LCAT", "hgnc_symbol": "LCAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:67973653-67978034", "ensembl_id": "ENSG00000213398" } }, "GRch38": { "90": { "location": "16:67939750-67944131", "ensembl_id": "ENSG00000213398" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "LCAT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Norum disease, MIM#\t245900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 91, "hash_id": null, "name": "Corneal Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. 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The corneal dystrophies can be divided into three groups based on the sole or predominant anatomical location of the abnormalities: (a). the anterior corneal dystrophies affect primarily the corneal epithelium and its basement membrane or Bowman layer and the superficial corneal stroma, (b).the stromal corneal dystrophies affect the corneal stroma, (c). the posterior corneal dystrophies affect the Descemet membrane and the corneal endothelium. \r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Corneal Dystrophy' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 27/07/2020.", "status": "public", "version": "1.21", "version_created": "2026-02-22T15:53:37.257206+11:00", "relevant_disorders": [ "Abnormal corneal morphology", "HP:0000481" ], "stats": { "number_of_genes": 33, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "K12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6414", "gene_name": "keratin 12", "omim_gene": [ "601687" ], "alias_name": [ "Meesmann corneal dystrophy" ], "gene_symbol": "KRT12", "hgnc_symbol": "KRT12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39017555-39023462", "ensembl_id": "ENSG00000187242" } }, "GRch38": { "90": { "location": "17:40861303-40867210", "ensembl_id": "ENSG00000187242" } } }, "hgnc_date_symbol_changed": "1997-07-22" }, "entity_type": "gene", "entity_name": "KRT12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9171831", "22174841" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Meesmann corneal dystrophy 1, MIM# 122100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 91, "hash_id": null, "name": "Corneal Dystrophy", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nThe corneal dystrophies are a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea, causing opacification. 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It is a consensus panel used by RMH. 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