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"Anophthalmia or microphthalmia", "disease_group": "Ophthalmological disorders", "disease_sub_group": "Ocular malformations", "status": "public", "version": "1.51", "version_created": "2022-10-06T21:20:08.139573Z", "relevant_disorders": [ "Anophthalmia or microphthamia", "Anophthalmia/microphthamia", "Anophthalmia/microphthalmia" ], "stats": { "number_of_genes": 63, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ11362" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25657", "gene_name": "BCL6 corepressor like 1", "omim_gene": [ "300688" ], "alias_name": null, "gene_symbol": "BCORL1", "hgnc_symbol": "BCORL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:129115083-129192058", "ensembl_id": "ENSG00000085185" } }, "GRch38": { "90": { "location": "X:129981107-130058083", "ensembl_id": "ENSG00000085185" } } }, "hgnc_date_symbol_changed": "2004-07-27" }, "entity_type": "gene", "entity_name": "BCORL1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30941876", "24123876" ], "evidence": [ "Wessex and West Midlands GLH", "NHS GMS", "Literature" ], "phenotypes": [ "Intellectual disability and seizures", "Shukla-Vernon syndrome, 301029" ], "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": 402, "hash_id": null, "name": "Early onset or syndromic epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Inherited Epilepsy Syndromes", "status": "public", "version": "4.193", "version_created": "2024-04-11T12:27:17.323902Z", "relevant_disorders": [ "Epilepsy Plus", "Epilepsy plus other features", "Genetic Epilepsy Syndromes", "Epileptic encephalopathy", "Familial Focal Epilepsies", "Familial Genetic Generalised Epilepsies", "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)", "Genetic Epilepsies with Febrile Seizures Plus", "Early onset or syndromic epilepsy", "Genetic epilepsy syndromes", "R59" ], "stats": { "number_of_genes": 828, "number_of_strs": 2, "number_of_regions": 17 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" } ] }, "transcript": null }, { "gene_data": { "alias": [ "PRPC8", "Prp8", "hPrp8", "SNRNP220" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17340", "gene_name": "pre-mRNA processing factor 8", "omim_gene": [ "607300" ], "alias_name": null, "gene_symbol": "PRPF8", "hgnc_symbol": "PRPF8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:1553923-1588176", "ensembl_id": "ENSG00000174231" } }, "GRch38": { "90": { "location": "17:1650629-1684882", "ensembl_id": "ENSG00000174231" } } }, "hgnc_date_symbol_changed": "2001-12-11" }, "entity_type": "gene", "entity_name": "PRPF8", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "20811066", "23714367", "30420816", "31696658", "35543142" ], "evidence": [ "NHS GMS", "Expert Review Green", "Literature" ], "phenotypes": [ "PRPF8-related developmental disorder (monoallelic)", "Retinitis pigmentosa 13, OMIM:600059" ], 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"slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" } ] }, "transcript": [] }, { "gene_data": { "alias": [ "LGR3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12373", "gene_name": "thyroid stimulating hormone receptor", "omim_gene": [ "603372" ], "alias_name": null, "gene_symbol": "TSHR", "hgnc_symbol": "TSHR", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "14:81421333-81612646", "ensembl_id": "ENSG00000165409" } }, "GRch38": { "90": { "location": "14:80954989-81146302", "ensembl_id": "ENSG00000165409" } } }, "hgnc_date_symbol_changed": "1990-03-05" }, "entity_type": "gene", "entity_name": "TSHR", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "Other - please provide details in the comments ", "publications": [], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "BRIDGE study SPEED NEURO Tier1 Gene" ], "phenotypes": [ "Hypothyroidism, congenital, nongoitrous, 1 275200", "Thyroid", "adenoma, hyperfunctioning, somatic", "Hyperthyroidism, nonautoimmune, 609152", "Thyroid carcinoma with thyrotoxicosis", "Hyperthyroidism, familial", "gestational, 603373" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental 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signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [ "SAP-3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4367", "gene_name": "GM2 ganglioside activator", "omim_gene": [ "613109" ], "alias_name": [ "cerebroside sulfate activator protein", "sphingolipid activator protein 3" ], "gene_symbol": "GM2A", "hgnc_symbol": "GM2A", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "5:150591711-150650001", "ensembl_id": "ENSG00000196743" } }, "GRch38": { "90": { "location": "5:151212150-151270440", "ensembl_id": "ENSG00000196743" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GM2A", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "8900233", "10364519", "1915858", "8244332", "25529582" ], "evidence": [ "Victorian Clinical Genetics Services", "Expert Review Green", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "GM2-gangliosidosis, AB variant, 272750", "GM2-GANGLIOSIDOSIS TYPE AB (GM2GAB)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.532", "version_created": "2024-04-18T18:59:40.692755Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2680, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [ "Cav1.2", "CACH2", "CACN2", "TS", "LQT8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1390", "gene_name": "calcium voltage-gated channel subunit alpha1 C", "omim_gene": [ "114205" ], "alias_name": null, "gene_symbol": "CACNA1C", "hgnc_symbol": "CACNA1C", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "12:2079952-2802108", "ensembl_id": "ENSG00000151067" } }, "GRch38": { "90": { "location": "12:1970786-2697950", "ensembl_id": "ENSG00000151067" } } }, "hgnc_date_symbol_changed": "1991-01-30" }, "entity_type": "gene", "entity_name": "CACNA1C", "confidence_level": "3", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "24896178", "15454078", "28371864" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Timothy syndrome, OMIM:601005", "Timothy syndrome, MONDO:0010979", "Long QT syndrome 8, OMIM:618447", "long qt syndrome 8, MONDO:0032756", "Brugada syndrome 3, OMIM:611875", "Brugada syndrome 3, MONDO:0012742", "CACNA1C-related disorder" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.532", "version_created": "2024-04-18T18:59:40.692755Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2680, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [ "76P", "FLJ14797" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16691", "gene_name": "tubulin gamma complex associated protein 4", "omim_gene": [ "609610" ], "alias_name": null, "gene_symbol": "TUBGCP4", "hgnc_symbol": "TUBGCP4", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "15:43661419-43699293", "ensembl_id": "ENSG00000137822" } }, "GRch38": { "90": { "location": "15:43369221-43409771", "ensembl_id": "ENSG00000137822" } } }, "hgnc_date_symbol_changed": "2007-08-20" }, "entity_type": "gene", "entity_name": "TUBGCP4", "confidence_level": "2", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "25817018" ], "evidence": [ "Expert Review Amber" ], "phenotypes": [ "Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335", "mildly delayed development" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.532", "version_created": "2024-04-18T18:59:40.692755Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2680, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7866", "gene_name": "noggin", "omim_gene": [ "602991" ], "alias_name": null, "gene_symbol": "NOG", "hgnc_symbol": "NOG", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "17:54671060-54672951", "ensembl_id": "ENSG00000183691" } }, "GRch38": { "90": { "location": "17:56593699-56595590", "ensembl_id": "ENSG00000183691" } } }, "hgnc_date_symbol_changed": "1999-03-24" }, "entity_type": "gene", "entity_name": "NOG", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "BRIDGE study SPEED NEURO Tier1 Gene" ], "phenotypes": [ "Symphalangism, proximal, 185800", "Multiple synostoses syndrome 1, 186500", "Tarsal-carpal coalition syndrome, 186570", "Stapes ankylosis with broad thumb and toes, 184460", "Brachydactyly, type B2, 611377" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and 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Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] }, "transcript": null }, { "gene_data": { "alias": [ "mtMetRS", "SPAX3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25133", "gene_name": "methionyl-tRNA synthetase 2, mitochondrial", "omim_gene": [ "609728" ], "alias_name": [ "methionine tRNA ligase 2, mitochondrial" ], "gene_symbol": "MARS2", "hgnc_symbol": "MARS2", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "2:198570087-198573113", "ensembl_id": "ENSG00000247626" } }, "GRch38": { "90": { "location": "2:197705369-197708387", "ensembl_id": "ENSG00000247626" } } }, "hgnc_date_symbol_changed": "2004-12-02" }, "entity_type": "gene", "entity_name": "MARS2", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [ "25754315" ], "evidence": [ "Expert Review Red", "Expert Review Red", "BRIDGE study SPEED NEURO Tier1 Gene" ], "phenotypes": [ "?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.532", "version_created": "2024-04-18T18:59:40.692755Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], 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