Region Search List
Search Regions
GET /api/v1/regions/?format=api
{ "count": 208, "next": "https://panelapp.genomicsengland.co.uk/api/v1/regions/?format=api&page=2", "previous": null, "results": [ { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37392-Loss", "verbose_name": "7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20301427" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "194050", "Williams syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "7", "grch37_coordinates": null, "grch38_coordinates": [ 73330452, 74728172 ], "tags": [], "panel": { "id": 131, "hash_id": "553f9744bb5a1616e5ed45e8", "name": "IUGR and IGF abnormalities", "disease_group": "Endocrine disorders", "disease_sub_group": 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accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes", "610543" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "16", "grch37_coordinates": null, "grch38_coordinates": [ 3725055, 3880120 ], "tags": [], "panel": { "id": 131, "hash_id": "553f9744bb5a1616e5ed45e8", "name": "IUGR and IGF abnormalities", "disease_group": "Endocrine disorders", "disease_sub_group": "Growth hormone disorders", "status": "public", "version": "1.59", "version_created": "2024-04-09T15:06:23.972112Z", "relevant_disorders": [], "stats": { "number_of_genes": 112, "number_of_strs": 0, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37417-Loss", "verbose_name": "Xp22.31 recurrent region (includes STS) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Ichthyosis, X-linked", "308100" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "chromosome": "X", "grch37_coordinates": null, "grch38_coordinates": [ 6537771, 8156913 ], "tags": [], "panel": { "id": 282, "hash_id": "562e5d2622c1fc582756e3b5", "name": "Autosomal recessive congenital ichthyosis", "disease_group": "Dermatological disorders", "disease_sub_group": "Ichthyoses", "status": "public", "version": "1.14", "version_created": "2022-03-16T10:03:33.804804Z", "relevant_disorders": [], "stats": { "number_of_genes": 15, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37431-Loss", "verbose_name": "17q11.2 recurrent region (includes NF1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "dysmorphic features, cardiac anomalies and mental retardation", "613675", "variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors", "NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME", "NF1 MICRODELETION SYNDROME", "Chromosome 17q11.2 deletion syndrome, 1.4Mb" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 30780079, 31937008 ], "tags": [], "panel": { "id": 167, "hash_id": "55af764522c1fc78a829f89a", "name": "Familial Tumours Syndromes of the central & peripheral Nervous system", "disease_group": "Tumour syndromes", "disease_sub_group": "Muscle and nerve", "status": "public", "version": "1.14", "version_created": "2022-11-08T15:10:15.808800Z", "relevant_disorders": [ "Familial tumour syndromes of the central & peripheral nervous system", "Familial tumour syndromes of the central and peripheral nervous system" ], "stats": { "number_of_genes": 21, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37431-Loss", "verbose_name": "17q11.2 recurrent region (includes NF1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "dysmorphic features, cardiac anomalies and mental retardation", "613675", "variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors", "NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME", "NF1 MICRODELETION SYNDROME", "Chromosome 17q11.2 deletion syndrome, 1.4Mb" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 30780079, 31937008 ], "tags": [], "panel": { "id": 255, "hash_id": "57c5b45b8f62030d5014a949", "name": "Neurofibromatosis Type 1", "disease_group": "Tumour syndromes", "disease_sub_group": "Muscle and nerve", "status": "public", "version": "1.32", "version_created": "2022-10-13T15:59:47.914940Z", "relevant_disorders": [], "stats": { "number_of_genes": 30, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37432-Loss", "verbose_name": "17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "RCAD syndrome", "utero-vaginal atresia", "Schizophrenia", "614527", "delayed development, intellectual disability", "Renal cysts and diabetes syndrome", "Autism Spectrum Disorder", "Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females", "Chromosome 17q12 deletion syndrome", "global developmental delay" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 36458167, 37854616 ], "tags": [], "panel": { "id": 385, "hash_id": null, "name": "Neonatal cholestasis", "disease_group": "Gastroenterological disorders", "disease_sub_group": "Liver disease", "status": "public", "version": "1.26", "version_created": "2022-10-13T17:48:00.571148Z", "relevant_disorders": [], "stats": { "number_of_genes": 94, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37401-Loss", "verbose_name": "11p13 (WAGR syndrome) region Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome", "194072" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "11", "grch37_coordinates": null, "grch38_coordinates": [ 31781961, 32489442 ], "tags": [], "panel": { "id": 391, "hash_id": null, "name": "Adult solid tumours for rare disease", "disease_group": "Tumour syndromes", "disease_sub_group": "Tumour syndromes", "status": "public", "version": "1.40", "version_created": "2024-01-24T18:23:26.818298Z", "relevant_disorders": [ "Young adult onset cancer", "Exceptionally young adult onset cancer", "Multiple Tumours", "Rare tumour predisposition syndromes" ], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37446-Loss", "verbose_name": "22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [ "188400", "clefting", "Velocardiofacial syndrome", "neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells", "cardiac malformations", "Hearing deficits", "DiGeorge syndrome", "micrognathia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 18924718, 21111383 ], "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37433-Loss", "verbose_name": "22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20301696", "15889418", "15545748" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [ "diaphragmatic hernia", "facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay", "192430", "188400", "22q11.2 deletion syndrome", "renal anomalies", "cleft palate, polydactyly", "congenital heart disease", "Learning difficulties", "Velocardiofacial syndrome", "polyhydramnios", "DiGeorge syndrome", "immune deficiency" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 18924718, 20299685 ], "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37486-Loss", "verbose_name": "16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "23258348", "19966786", "20808231" ], "evidence": [ "Expert list", "Expert Review Green", "ClinGen" ], "phenotypes": [ "developmental delay", "613444", "obesity" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "16", "grch37_coordinates": null, "grch38_coordinates": [ 28811314, 29035178 ], "tags": [], "panel": { "id": 130, "hash_id": "55d2fc2d22c1fc2cc6635960", "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "Obesity syndromes", "status": "public", "version": "4.10", "version_created": "2023-10-26T01:06:00.752312Z", "relevant_disorders": [ "Significant early-onset obesity with or without other endocrine features and short stature", "Significant early-onset obesity +/- other endocrine features and short stature", "R149" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 3 }, "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": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37404-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "22045295", "7611294" ], "evidence": [ "Expert list", "Expert Review Green", "ClinGen" ], "phenotypes": [ "microcephaly", "Developmental delay, muscle weakness", "Mental retardation", "Angelman syndrome", "176270", "Prader-Willi syndrome", "105835" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 22782170, 28134728 ], "tags": [], "panel": { "id": 130, "hash_id": "55d2fc2d22c1fc2cc6635960", "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "Obesity syndromes", "status": "public", "version": "4.10", "version_created": "2023-10-26T01:06:00.752312Z", "relevant_disorders": [ "Significant early-onset obesity with or without other endocrine features and short stature", "Significant early-onset obesity +/- other endocrine features and short stature", "R149" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 3 }, "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": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37478-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "22045295", "7611294" ], "evidence": [ "Expert list", "Expert Review Green", "ClinGen" ], "phenotypes": [ "microcephaly", "Developmental delay, muscle weakness", "Mental retardation", "Angelman syndrome", "176270", "Prader-Willi syndrome", "105830" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 23465365, 28134728 ], "tags": [], "panel": { "id": 130, "hash_id": "55d2fc2d22c1fc2cc6635960", "name": "Severe early-onset obesity", "disease_group": "Endocrine disorders", "disease_sub_group": "Obesity syndromes", "status": "public", "version": "4.10", "version_created": "2023-10-26T01:06:00.752312Z", "relevant_disorders": [ "Significant early-onset obesity with or without other endocrine features and short stature", "Significant early-onset obesity +/- other endocrine features and short stature", "R149" ], "stats": { "number_of_genes": 44, "number_of_strs": 0, "number_of_regions": 3 }, "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": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37432-Loss", "verbose_name": "17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "RCAD syndrome", "utero-vaginal atresia", "Schizophrenia", "614527", "delayed development, intellectual disability", "Renal cysts and diabetes syndrome", "Autism Spectrum Disorder", "Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females", "Chromosome 17q12 deletion syndrome", "global developmental delay" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 36458167, 37854616 ], "tags": [], "panel": { "id": 26, "hash_id": "55a9238422c1fc6711b0c6c3", "name": "Diabetes with additional phenotypes suggestive of a monogenic aetiology", "disease_group": "Endocrine disorders", "disease_sub_group": "Disorders of unusual phenotypes", "status": "public", "version": "1.67", "version_created": "2022-11-03T15:05:41.914875Z", "relevant_disorders": [], "stats": { "number_of_genes": 64, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37417-Loss", "verbose_name": "Xp22.31 recurrent region (includes STS) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green" ], "phenotypes": [ "308100", "Ichthyosis, X-linked" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "chromosome": "X", "grch37_coordinates": null, "grch38_coordinates": [ 6537771, 8156913 ], "tags": [], "panel": { "id": 555, "hash_id": null, "name": "Ichthyosis and erythrokeratoderma", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.28", "version_created": "2024-04-10T20:26:35.419194Z", "relevant_disorders": [ "R165" ], "stats": { "number_of_genes": 77, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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": "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37478-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "7611294", "22045295" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "microcephaly", "Developmental delay, muscle weakness", "176270", "Angelman syndrome", "Prader-Willi syndrome", "105830", "Mental retardation" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 23513243, 28312040 ], "tags": [], "panel": { "id": 465, "hash_id": null, "name": "Other rare neuromuscular disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "19.202", "version_created": "2024-04-03T11:24:49.009776Z", "relevant_disorders": [ "Neuromuscular disorders", "R381" ], "stats": { "number_of_genes": 458, "number_of_strs": 7, "number_of_regions": 8 }, "types": [ { "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37408-Loss", "verbose_name": "2p15p16.1 region (includes BCL11A) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "18245392", "22579565", "16963482" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect", "612513", "PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "2", "grch37_coordinates": null, "grch38_coordinates": [ 58912065, 62261736 ], "tags": [], "panel": { "id": 465, "hash_id": null, "name": "Other rare neuromuscular disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "19.202", "version_created": "2024-04-03T11:24:49.009776Z", "relevant_disorders": [ "Neuromuscular disorders", "R381" ], "stats": { "number_of_genes": 458, "number_of_strs": 7, "number_of_regions": 8 }, "types": [ { "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37420-Loss", "verbose_name": "17q21.3 recurrent region (includes KANSL1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "18628315", "25217958" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "PMID: 25217958", "PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies", "610443", "Koolen-De Vries syndrome 610443" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 45608879, 46087510 ], "tags": [], "panel": { "id": 465, "hash_id": null, "name": "Other rare neuromuscular disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "19.202", "version_created": "2024-04-03T11:24:49.009776Z", "relevant_disorders": [ "Neuromuscular disorders", "R381" ], "stats": { "number_of_genes": 458, "number_of_strs": 7, "number_of_regions": 8 }, "types": [ { "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37404-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "7611294", "22045295" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "microcephaly", "Developmental delay, muscle weakness", "176270", "105833", "Angelman syndrome", "Prader-Willi syndrome", "Mental retardation" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 22782170, 28134729 ], "tags": [], "panel": { "id": 465, "hash_id": null, "name": "Other rare neuromuscular disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "19.202", "version_created": "2024-04-03T11:24:49.009776Z", "relevant_disorders": [ "Neuromuscular disorders", "R381" ], "stats": { "number_of_genes": 458, "number_of_strs": 7, "number_of_regions": 8 }, "types": [ { "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37429-Loss", "verbose_name": "4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 80, "type_of_variants": "cnv_loss", "publications": [ "14630905", "20026556" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "194190", "Wolf-Hirschhorn syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "4", "grch37_coordinates": null, "grch38_coordinates": [ 337779, 2009235 ], "tags": [], "panel": { "id": 465, "hash_id": null, "name": "Other rare neuromuscular disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "19.202", "version_created": "2024-04-03T11:24:49.009776Z", "relevant_disorders": [ "Neuromuscular disorders", "R381" ], "stats": { "number_of_genes": 458, "number_of_strs": 7, "number_of_regions": 8 }, "types": [ { "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": "Super Panel", "slug": "superpanel", "description": "Superpanel" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37468-Loss", "verbose_name": "Xp11.23 region (includes MAOA and MAOB) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20485326", "22365943", "23414621" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "episodes of sudden loss of muscle 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"region", "entity_name": "ISCA-37404-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "7611294", "22045295" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "microcephaly", "Developmental delay, muscle weakness", "176270", "105831", "Angelman syndrome", "Prader-Willi syndrome", "Mental retardation" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 22782170, 28134728 ], "tags": [], "panel": { "id": 477, "hash_id": null, "name": "Ataxia and cerebellar anomalies - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.64", "version_created": "2024-04-23T13:36:12.679484Z", "relevant_disorders": [], "stats": { "number_of_genes": 295, "number_of_strs": 14, "number_of_regions": 4 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37478-Gain", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", "triplosensitivity_score": "3", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "16840569", "9106540", "18374305" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems", "hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636", "chromosome 15q11-q13 duplication syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 23465365, 28134728 ], "tags": [], "panel": { "id": 477, "hash_id": null, "name": "Ataxia and cerebellar anomalies - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.64", "version_created": "2024-04-23T13:36:12.679484Z", "relevant_disorders": [], "stats": { "number_of_genes": 295, "number_of_strs": 14, "number_of_regions": 4 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-46553-Loss", "verbose_name": "3q24 Region (includes ZIC1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "21204220", "15338008", "22067867", "21471554", "28503614" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "3", "grch37_coordinates": null, "grch38_coordinates": [ 136684193, 148623326 ], "tags": [], "panel": { "id": 477, "hash_id": null, "name": "Ataxia and cerebellar anomalies - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.64", "version_created": "2024-04-23T13:36:12.679484Z", "relevant_disorders": [], "stats": { "number_of_genes": 295, "number_of_strs": 14, "number_of_regions": 4 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37478-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "7611294", "22045295" ], "evidence": [ "Expert Review Green" ], "phenotypes": [ "microcephaly", "Developmental delay, muscle weakness", "176270", "Angelman syndrome", "Prader-Willi syndrome", "105830", "Mental retardation" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 23465365, 28134728 ], "tags": [], "panel": { "id": 477, "hash_id": null, "name": "Ataxia and cerebellar anomalies - narrow panel", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.64", "version_created": "2024-04-23T13:36:12.679484Z", "relevant_disorders": [], "stats": { "number_of_genes": 295, "number_of_strs": 14, "number_of_regions": 4 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37396-Loss", "verbose_name": "15q24 recurrent region (A-D) (includes SIN3A) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "22180641", "19557438", "19233321" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 15q24 deletion syndrome, 613406", "PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology", "developmental delay, severe speech problems", "PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features", "PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 72671374, 75680568 ], "tags": [], "panel": { "id": 251, "hash_id": "57f4dbd18f62036d37cfe4e4", "name": "Deafness and congenital structural abnormalities", "disease_group": "Hearing and ear disorders", "disease_sub_group": "Deafness and congenital structural abnormalities", "status": "public", "version": "1.22", "version_created": "2022-11-14T17:09:08.422566Z", "relevant_disorders": [ "Bilateral microtia", "Ear malformations with hearing impairment", "Ear malformations", "Familial hemifacial microsomia" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37393-Gain", "verbose_name": "22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", "triplosensitivity_score": "3", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "11693792", "22890013", "22495764" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome", "115470" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 16912063, 18109094 ], "tags": [], "panel": { "id": 251, "hash_id": "57f4dbd18f62036d37cfe4e4", "name": "Deafness and congenital structural abnormalities", "disease_group": "Hearing and ear disorders", "disease_sub_group": "Deafness and congenital structural abnormalities", "status": "public", "version": "1.22", "version_created": "2022-11-14T17:09:08.422566Z", "relevant_disorders": [ "Bilateral microtia", "Ear malformations with hearing impairment", "Ear malformations", "Familial hemifacial microsomia" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37501-Loss", "verbose_name": "17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20206336", "22052739" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 17q23.1-q23.2 deletion syndrome, 613355", "PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities", "PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 60035641, 62198448 ], "tags": [], "panel": { "id": 251, "hash_id": "57f4dbd18f62036d37cfe4e4", "name": "Deafness and congenital structural abnormalities", "disease_group": "Hearing and ear disorders", "disease_sub_group": "Deafness and congenital structural abnormalities", "status": "public", "version": "1.22", "version_created": "2022-11-14T17:09:08.422566Z", "relevant_disorders": [ "Bilateral microtia", "Ear malformations with hearing impairment", "Ear malformations", "Familial hemifacial microsomia" ], "stats": { "number_of_genes": 54, "number_of_strs": 0, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37442-Gain", "verbose_name": "6q24 region (includes PLAGL1) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", "triplosensitivity_score": "3", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "10923638", "8842729", "10615957" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "601410", "Transient neonatal diabetes mellitus", "Transient neonatal diabetes" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "6", "grch37_coordinates": null, "grch38_coordinates": [ 143922155, 144095424 ], "tags": [], "panel": { "id": 293, "hash_id": "55a9041e22c1fc6711b0c6c0", "name": "Neonatal diabetes", "disease_group": "Endocrine disorders", "disease_sub_group": "Disorders of unusual phenotypes", "status": "public", "version": "4.4", "version_created": "2023-10-26T01:02:28.187632Z", "relevant_disorders": [ "Neonatal diabetes (diagnosed less than 6 months)", "Neonatal diabetes diagnosed <6 months", "Diabetes - neonatal onset", "R143" ], "stats": { "number_of_genes": 40, "number_of_strs": 0, "number_of_regions": 1 }, "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37401-Loss", "verbose_name": "11p13 (WAGR syndrome) region Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome", "194072" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "11", "grch37_coordinates": null, "grch38_coordinates": [ 31781961, 32489442 ], "tags": [], "panel": { "id": 243, "hash_id": "55af539322c1fc78a9ef5052", "name": "Childhood solid tumours", "disease_group": "Tumour syndromes", "disease_sub_group": "Childhood Tumours", "status": "public", "version": "4.18", "version_created": "2024-04-11T12:52:20.613240Z", "relevant_disorders": [ "Paediatric congenital malformation-dysmorphism-tumour syndrome", "Paediatric congenital malformation-dysmorphism-tumour syndromes", "Paediatric congenital malformation-dysmorphism-tumour sydromes", "Paediatric congenital malformation-dysmorphism-tumour syndrome", "Tumour predisposition - childhood onset", "R359" ], "stats": { "number_of_genes": 121, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Cancer Germline Virtual", "slug": "gms-cancer-germline-virtual", "description": "This is a panel used for WGS germline analysis for the GMS." }, { "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": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37394-Loss", "verbose_name": "2q37.3 terminal region (includes HDAC4) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination", "600430" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "2", "grch37_coordinates": null, "grch38_coordinates": [ 239032997, 241988449 ], "tags": [], "panel": { "id": 384, "hash_id": null, "name": "Limb disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.19", "version_created": "2024-04-23T11:37:25.234707Z", "relevant_disorders": [], "stats": { "number_of_genes": 260, "number_of_strs": 0, "number_of_regions": 2 }, "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37467-Gain", "verbose_name": "7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": null, "triplosensitivity_score": "3", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "19291772", "18417549", "18178630" ], "evidence": [ "Expert Review Amber", "ClinGen" ], "phenotypes": [ "human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype", "174500", "Triphalangeal thumbpolysyndactyly syndrome", "syndactyly type IV with tibial hypoplasia" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "7", "grch37_coordinates": null, "grch38_coordinates": [ 156791102, 156791874 ], "tags": [ "Q3_23_promote_green" ], "panel": { "id": 384, "hash_id": null, "name": "Limb disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.19", "version_created": "2024-04-23T11:37:25.234707Z", "relevant_disorders": [], "stats": { "number_of_genes": 260, "number_of_strs": 0, "number_of_regions": 2 }, "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37431-Loss", "verbose_name": "17q11.2 recurrent region (includes NF1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "ClinGen" ], "phenotypes": [ "dysmorphic features, cardiac anomalies and mental retardation", "613675", "variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors", "NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME", "NF1 MICRODELETION SYNDROME", "Chromosome 17q11.2 deletion syndrome, 1.4Mb" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 30780079, 31937008 ], "tags": [], "panel": { "id": 559, "hash_id": null, "name": "Pigmentary skin disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.11", "version_created": "2024-03-26T14:51:20.333416Z", "relevant_disorders": [ "R236" ], "stats": { "number_of_genes": 133, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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": "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37432-Loss", "verbose_name": "17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "RCAD syndrome", "utero-vaginal atresia", "Schizophrenia", "614527", "delayed development, intellectual disability", "Renal cysts and diabetes syndrome", "Autism Spectrum Disorder", "Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females", "Chromosome 17q12 deletion syndrome", "global developmental delay" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 36458167, 37854616 ], "tags": [], "panel": { "id": 152, "hash_id": "553f9745bb5a1616e5ed45e9", "name": "Familial diabetes", "disease_group": "Endocrine disorders", "disease_sub_group": "Disorders of unusual phenotypes", "status": "public", "version": "1.67", "version_created": "2022-11-03T15:05:48.870469Z", "relevant_disorders": [ "Familial young-onset non-insulin-dependent diabetes" ], "stats": { "number_of_genes": 56, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37478-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "22045295", "7611294" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "microcephaly", "Developmental delay, muscle weakness", "Mental retardation", "Angelman syndrome", "176270", "Prader-Willi syndrome", "105830" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 23465365, 28134728 ], "tags": [], "panel": { "id": 20, "hash_id": "559a7d1022c1fc58ad67fc97", "name": "Hereditary ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Motor Disorders of the CNS", "status": "public", "version": "1.332", "version_created": "2024-01-23T16:09:17.853479Z", "relevant_disorders": [], "stats": { "number_of_genes": 167, "number_of_strs": 14, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37404-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "22045295", "7611294" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "microcephaly", "Developmental delay, muscle weakness", "Mental retardation", "Angelman syndrome", "176270", "Prader-Willi syndrome", "105831" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 22782170, 28134728 ], "tags": [], "panel": { "id": 20, "hash_id": "559a7d1022c1fc58ad67fc97", "name": "Hereditary ataxia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Motor Disorders of the CNS", "status": "public", "version": "1.332", "version_created": "2024-01-23T16:09:17.853479Z", "relevant_disorders": [], "stats": { "number_of_genes": 167, "number_of_strs": 14, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37478-Gain", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", "triplosensitivity_score": "3", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", 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"types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37430-Loss", "verbose_name": "17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay", "growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment", "Chromosome 17p13.3 duplication syndrome", "prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw", "Characteristic facies, pre- and post-natal growth retardation", "247200", "classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities", "Miller-Dieker lissencephaly syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 1344539, 2685615 ], "tags": [], "panel": { "id": 96, "hash_id": "568f8ba422c1fc1c79ca1774", "name": "Malformations of cortical development", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "4.26", "version_created": "2024-04-03T10:27:31.688427Z", "relevant_disorders": [], "stats": { "number_of_genes": 126, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37401-Loss", "verbose_name": "11p13 (WAGR syndrome) region Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome", "194072" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "11", "grch37_coordinates": null, "grch38_coordinates": [ 31781961, 32489442 ], "tags": [], "panel": { "id": 510, "hash_id": null, "name": "Sporadic aniridia", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.5", "version_created": "2023-10-26T10:45:00.925359Z", "relevant_disorders": [ "Aniridia", "R38" ], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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": "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37432-Loss", "verbose_name": "17q12 recurrent (RCAD syndrome) region (includes HNF1B) 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and urinary tract disease", "status": "public", "version": "4.24", "version_created": "2024-01-02T13:34:19.183239Z", "relevant_disorders": [ "Cystic kidney disease" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37405-Loss", "verbose_name": "2q13 recurrent region (includes 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"Rare Disease 100K" }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37446-Loss", "verbose_name": "22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "12548732" ], "evidence": [ "Expert Review Green", "ClinGen" ], 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"status": "public", "version": "3.10", "version_created": "2023-10-26T11:01:42.408563Z", "relevant_disorders": [ "Paroxysmal neurological disorders", "pain disorders and sleep disorders", "R66" ], "stats": { "number_of_genes": 86, "number_of_strs": 5, "number_of_regions": 1 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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": "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37405-Loss", 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"haploinsufficiency_score": "", "triplosensitivity_score": "2", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "21933911", "23345203" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.", "mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)", "congenital heart disease", "8p23.1 duplication syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "8", "grch37_coordinates": null, "grch38_coordinates": [ 8242542, 11908820 ], "tags": [], "panel": { "id": 212, "hash_id": "583c128f8f62036f70db8d29", "name": "Familial non syndromic congenital heart disease", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Congenital heart disease", "status": "public", "version": "1.80", "version_created": "2023-02-02T12:29:05.684574Z", "relevant_disorders": [ "Fallots tetralogy", "Hypoplastic Left Heart Syndrome", "Left Ventricular Outflow Tract obstruction disorders", "Pulmonary atresia", "Transposition of the great vessels", "Familial non-syndromic congenital heart disease", "Familial congenital heart disease", "Congenital heart disease", "Syndromic congenital heart disease", "Isomerism and laterality disorders" ], "stats": { "number_of_genes": 52, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37434-Loss", "verbose_name": "1p36 terminal region (includes GABRD) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "17918734", "22766398", "18245432" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "posteriorly rotated, low-set, abnormal ears", "brachycephaly", "epicanthus", "heart defects", "pointed chin", "deep-set eyes", "microcephaly", "hypotonia", "seizures", "poor/absent speech", "central nervous system anomalies", "large anterior fontanels", "microbrachycephaly", "mental retardation", "growth impairment", "large, late-closing anterior fontanel", "flat nose", "nasal bridge", "developmental delay", "hearing impairment", "distinct dysmorphic features", "1p36 deletion syndrome", "607872" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "1", "grch37_coordinates": null, "grch38_coordinates": [ 898703, 6229913 ], "tags": [], "panel": { "id": 212, "hash_id": "583c128f8f62036f70db8d29", "name": "Familial non syndromic congenital heart disease", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Congenital heart disease", "status": "public", "version": "1.80", "version_created": "2023-02-02T12:29:05.684574Z", "relevant_disorders": [ "Fallots tetralogy", "Hypoplastic Left Heart Syndrome", "Left Ventricular Outflow Tract obstruction disorders", "Pulmonary atresia", "Transposition of the great vessels", "Familial non-syndromic congenital heart disease", "Familial congenital heart disease", "Congenital heart disease", "Syndromic congenital heart disease", "Isomerism and laterality disorders" ], "stats": { "number_of_genes": 52, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37393-Gain", "verbose_name": "22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", "triplosensitivity_score": "3", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "11693792", "22890013", "22495764" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome", "115470" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 16912063, 18109094 ], "tags": [], "panel": { "id": 212, "hash_id": "583c128f8f62036f70db8d29", "name": "Familial non syndromic congenital heart disease", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Congenital heart disease", "status": "public", "version": "1.80", "version_created": "2023-02-02T12:29:05.684574Z", "relevant_disorders": [ "Fallots tetralogy", "Hypoplastic Left Heart Syndrome", "Left Ventricular Outflow Tract obstruction disorders", "Pulmonary atresia", "Transposition of the great vessels", "Familial non-syndromic congenital heart disease", "Familial congenital heart disease", "Congenital heart disease", "Syndromic congenital heart disease", "Isomerism and laterality disorders" ], "stats": { "number_of_genes": 52, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37501-Loss", "verbose_name": "17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20206336", "22052739" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome 17q23.1-q23.2 deletion syndrome, 613355", "PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities", "PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 60035641, 62198448 ], "tags": [], "panel": { "id": 212, "hash_id": "583c128f8f62036f70db8d29", "name": "Familial non syndromic congenital heart disease", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Congenital heart disease", "status": "public", "version": "1.80", "version_created": "2023-02-02T12:29:05.684574Z", "relevant_disorders": [ "Fallots tetralogy", "Hypoplastic Left Heart Syndrome", "Left Ventricular Outflow Tract obstruction disorders", "Pulmonary atresia", "Transposition of the great vessels", "Familial non-syndromic congenital heart disease", "Familial congenital heart disease", "Congenital heart disease", "Syndromic congenital heart disease", "Isomerism and laterality disorders" ], "stats": { "number_of_genes": 52, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37392-Loss", "verbose_name": "7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20301427" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "194050", "Williams syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "7", "grch37_coordinates": null, "grch38_coordinates": [ 73330452, 74728172 ], "tags": [], "panel": { "id": 212, "hash_id": "583c128f8f62036f70db8d29", "name": "Familial non syndromic congenital heart disease", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Congenital heart disease", "status": "public", "version": "1.80", "version_created": "2023-02-02T12:29:05.684574Z", "relevant_disorders": [ "Fallots tetralogy", "Hypoplastic Left Heart Syndrome", "Left Ventricular Outflow Tract obstruction disorders", "Pulmonary atresia", "Transposition of the great vessels", "Familial non-syndromic congenital heart disease", "Familial congenital heart disease", "Congenital heart disease", "Syndromic congenital heart disease", "Isomerism and laterality disorders" ], "stats": { "number_of_genes": 52, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37423-Loss", "verbose_name": "8p23.1 recurrent region (includes GATA4) Loss", "confidence_level": "3", 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Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.", "congenital heart defects, microcephaly, psychomotor delay and behavioural problems", "hyperactivity, craniofacial abnormalities", "8p23.1 microdeletion syndrome", "moderate intellectual disability" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "8", "grch37_coordinates": null, "grch38_coordinates": [ 8242542, 11908820 ], "tags": [], "panel": { "id": 212, "hash_id": "583c128f8f62036f70db8d29", "name": "Familial non syndromic congenital heart disease", "disease_group": "Cardiovascular disorders", "disease_sub_group": "Congenital heart disease", "status": "public", "version": "1.80", "version_created": "2023-02-02T12:29:05.684574Z", "relevant_disorders": [ "Fallots tetralogy", "Hypoplastic Left Heart Syndrome", "Left 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"Schizophrenia", "Chromosome 17q12 deletion syndrome", "delayed development, intellectual disability", "global developmental delay", "Autism Spectrum Disorder", "Renal cysts and diabetes syndrome", "Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 36458167, 37854616 ], "tags": [ "curated_removed" ], "panel": { "id": 472, "hash_id": null, "name": "Monogenic diabetes", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "2.57", "version_created": "2024-03-01T14:37:15.947846Z", "relevant_disorders": [ "R141" ], "stats": { "number_of_genes": 79, "number_of_strs": 0, "number_of_regions": 1 }, "types": [ { "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 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unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 45627800, 46087514 ], "tags": [], "panel": { "id": 225, "hash_id": "553f94b6bb5a1616e5ed459a", "name": "Congenital myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "4.37", "version_created": "2024-04-03T11:24:42.434877Z", "relevant_disorders": [ "R81" ], "stats": { "number_of_genes": 124, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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", 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"Congenital myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "4.37", "version_created": "2024-04-03T11:24:42.434877Z", "relevant_disorders": [ "R81" ], "stats": { "number_of_genes": 124, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37429-Loss", "verbose_name": "4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20026556", "14630905" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Wolf-Hirschhorn syndrome, OMIM:194190" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "4", "grch37_coordinates": null, "grch38_coordinates": [ 337779, 2009235 ], "tags": [], "panel": { "id": 225, "hash_id": "553f94b6bb5a1616e5ed459a", "name": "Congenital myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "4.37", "version_created": "2024-04-03T11:24:42.434877Z", "relevant_disorders": [ "R81" ], "stats": { "number_of_genes": 124, "number_of_strs": 2, "number_of_regions": 3 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37401-Loss", "verbose_name": "11p13 (WAGR syndrome) region Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", 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It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop", "hereditary neuropathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 14194598, 15519638 ], "tags": [], "panel": { "id": 85, "hash_id": "55ad205422c1fc7041340234", "name": "Hereditary neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Motor and Sensory Disorders of the PNS", "status": "public", "version": "1.477", "version_created": "2024-04-17T13:10:56.588432Z", "relevant_disorders": [ "Charcot-Marie-Tooth disease" ], "stats": { "number_of_genes": 284, "number_of_strs": 11, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37436-Loss", "verbose_name": "17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20301566" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "162500", "Charcot-Marie-Tooth disease, type 1A", "muscle weakness", "repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop", "Neuropathy, recurrent, with pressure palsies", "mild to moderate peripheral neuropathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 14194598, 15519638 ], "tags": [], "panel": { "id": 85, "hash_id": "55ad205422c1fc7041340234", "name": "Hereditary neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Motor and Sensory Disorders of the PNS", "status": "public", "version": "1.477", "version_created": "2024-04-17T13:10:56.588432Z", "relevant_disorders": [ "Charcot-Marie-Tooth disease" ], "stats": { "number_of_genes": 284, "number_of_strs": 11, "number_of_regions": 2 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-46297-Loss", "verbose_name": "16p12.2 recurrent region (distal)(includes OTOA) Loss", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "30", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "31204719", "19888295", "20301607", "25719193", "30836598" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "chromosome": "16", "grch37_coordinates": null, "grch38_coordinates": [ 21558792, 21729102 ], "tags": [], "panel": { "id": 126, "hash_id": "558ac48fbb5a16630dcfeaad", "name": "Monogenic hearing loss", "disease_group": "Hearing and ear disorders", "disease_sub_group": "Non-syndromic hearing loss", "status": "public", "version": "4.38", "version_created": "2024-04-19T12:11:20.072654Z", "relevant_disorders": [ "Hearing loss", "Congenital hearing impairment", "Autosomal dominant deafness", "Congenital hearing impairment (profound/severe)", "Non-syndromic hearing loss", "R67" ], "stats": { "number_of_genes": 422, "number_of_strs": 0, "number_of_regions": 1 }, "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": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" } ] } } ] }