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GET /api/v1/entities/?format=api&page=323
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"Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease", "Immunodeficiencies affecting cellular and humoral immunity" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 111, "hash_id": "58c7fd7f8f6203413360f1b6", "name": "COVID-19 research", "disease_group": "Viral research", "disease_sub_group": "", "status": "public", "version": "1.141", "version_created": "2024-01-04T14:08:43.065350Z", "relevant_disorders": [ "Viral susceptibility" ], "stats": { "number_of_genes": 695, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "LRRC16C" ], "biotype": "protein_coding", "hgnc_id": "HGNC:27089", "gene_name": "capping protein regulator and myosin 1 linker 2", "omim_gene": [ "610859" ], "alias_name": [ "RGD, leucine-rich repeat, tropomodulin and 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"disease_sub_group": "Interstitial lung disorders", "status": "public", "version": "1.31", "version_created": "2024-04-09T15:06:27.920411Z", "relevant_disorders": [], "stats": { "number_of_genes": 75, "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": [ "MMAC1", "TEP1", "PTEN1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9588", "gene_name": "phosphatase and tensin homolog", "omim_gene": [ "601728" ], "alias_name": [ "mutated in multiple advanced cancers 1" ], "gene_symbol": "PTEN", "hgnc_symbol": "PTEN", "hgnc_release": "2017-11-03T00:00:00", "ensembl_genes": { "GRch37": { "82": { "location": "10:89622870-89731687", "ensembl_id": "ENSG00000171862" } }, "GRch38": { "90": { "location": "10:87863113-87971930", "ensembl_id": "ENSG00000171862" } } }, "hgnc_date_symbol_changed": "1997-04-21" }, "entity_type": "gene", "entity_name": "PTEN", "confidence_level": "1", "penetrance": "Complete", "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Radboud University Medical Center, Nijmegen" ], "phenotypes": [ "Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355" ], "mode_of_inheritance": "", "tags": [], "panel": { "id": 101, "hash_id": "553f9598bb5a1616e5ed45ae", "name": "VACTERL-like phenotypes", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Limb disorders", "status": "public", "version": "1.34", "version_created": 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[ "Expert Review Red", "Expert list" ], "phenotypes": [ "hydrocephalus", "arthrogryposis", "abdominal distension" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 179, "hash_id": "5763f35c8f620350a22bccdf", "name": "Hydrocephalus", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.4", "version_created": "2024-02-26T12:23:29.243504Z", "relevant_disorders": [ "Hydrocephalus", "R86" ], "stats": { "number_of_genes": 108, "number_of_strs": 0, "number_of_regions": 0 }, "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 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"ENSG00000007314" } } }, "hgnc_date_symbol_changed": "1990-09-30" }, "entity_type": "gene", "entity_name": "SCN4A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23801527", "28779239", "17998485", "32978841" ], "evidence": [ "NHS GMS", "Expert Review Green" ], "phenotypes": [ "Exercise induced cramps, muscle fatigue, myopathy", "Hyperkalemic periodic paralysis, type 2, OMIM:170500", "Hypokalemic periodic paralysis, type 2, OMIM:613345", "Paramyotonia congenita, OMIM:168300", "Myotonia congenita, atypical, acetazolamide-responsive, OMIM:608390", "Myasthenic syndrome, congenital, 16, OMIM:614198" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 1141, "hash_id": null, "name": "Acute rhabdomyolysis", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "1.18", "version_created": 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