Region Search List
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GET /api/v1/regions/?format=api&page=3
{ "count": 209, "next": null, "previous": "https://panelapp.genomicsengland.co.uk/api/v1/regions/?format=api&page=2", "results": [ { "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": [ "22890013", "11693792", "22495764" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [ "115470", "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" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 16912063, 18109094 ], "tags": [], "panel": { "id": 509, "hash_id": null, "name": "Structural eye disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.79", "version_created": "2024-05-02T13:56:09.588782Z", "relevant_disorders": [ "R36" ], "stats": { "number_of_genes": 496, "number_of_strs": 0, "number_of_regions": 2 }, "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": "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." } ] } }, { "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": 150, "hash_id": "568ea01e22c1fc1c78b6715d", "name": "Rare multisystem ciliopathy disorders", "disease_group": "Ciliopathies", "disease_sub_group": "Congenital malformations caused by ciliopathies", "status": "public", "version": "1.172", "version_created": "2024-04-26T11:22:05.926027Z", "relevant_disorders": [ "Joubert syndrome", "Bardet-Biedl Syndrome" ], "stats": { "number_of_genes": 205, "number_of_strs": 0, "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-37405-Loss", "verbose_name": "2q13 recurrent region (includes NPHP1) 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": [ "9856524", "15138899", "8852662" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities", "266900", "609583" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "chromosome": "2", "grch37_coordinates": null, "grch38_coordinates": [ 110104531, 110228181 ], "tags": [], "panel": { "id": 150, "hash_id": "568ea01e22c1fc1c78b6715d", "name": "Rare multisystem ciliopathy disorders", "disease_group": "Ciliopathies", "disease_sub_group": "Congenital malformations caused by ciliopathies", "status": "public", "version": "1.172", "version_created": "2024-04-26T11:22:05.926027Z", "relevant_disorders": [ "Joubert syndrome", "Bardet-Biedl Syndrome" ], "stats": { "number_of_genes": 205, "number_of_strs": 0, "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-37468-Loss", "verbose_name": "Xp11.23 region (includes MAOA and MAOB) Loss", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "23414621", "20485326", "22365943" ], "evidence": [ "Other", "Expert Review Red" ], "phenotypes": [ "hypotonia", "episodes of sudden loss of muscle tone", "short stature", "severe intellectual disability", "autistic features", "eleveated serotonin levels", "exiting behavior", "lip-smacking", "stereotypical hand movements" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "chromosome": "X", "grch37_coordinates": null, "grch38_coordinates": [ 43654906, 43882474 ], "tags": [], "panel": { "id": 540, "hash_id": null, "name": "Adult onset dystonia, chorea or related movement disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.19", "version_created": "2024-05-04T16:45:37.185506Z", "relevant_disorders": [ "Adult onset movement disorder", "R56" ], "stats": { "number_of_genes": 206, "number_of_strs": 11, "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 virtual gene panel for rare disease in the Test Directory." }, { "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37405-Loss", "verbose_name": "2q13 recurrent region (includes NPHP1) 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": [ "8852662", "9856524", "15138899" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "609583", "juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities", "266900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "chromosome": "2", "grch37_coordinates": null, "grch38_coordinates": [ 110104531, 110228181 ], "tags": [], "panel": { "id": 725, "hash_id": null, "name": "Renal ciliopathies", "disease_group": "Ciliopathies", "disease_sub_group": "Congenital malformations caused by ciliopathies", "status": "public", "version": "3.6", "version_created": "2024-05-01T12:31:47.650198Z", "relevant_disorders": [], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "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-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": [ "Schizophrenia", "Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females", "delayed development, intellectual disability", "614527", "RCAD syndrome", "utero-vaginal atresia", "Chromosome 17q12 deletion syndrome", "Autism Spectrum Disorder", "global developmental delay", "Renal cysts and diabetes syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 36458167, 37854616 ], "tags": [], "panel": { "id": 725, "hash_id": null, "name": "Renal ciliopathies", "disease_group": "Ciliopathies", "disease_sub_group": "Congenital malformations caused by ciliopathies", "status": "public", "version": "3.6", "version_created": "2024-05-01T12:31:47.650198Z", "relevant_disorders": [], "stats": { "number_of_genes": 101, "number_of_strs": 0, "number_of_regions": 2 }, "types": [ { "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": "1", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [], "evidence": [ "Expert Review Red", "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", "NF1 MICRODELETION SYNDROME", "NEUROFIBROMATOSIS 1 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": 749, "hash_id": null, "name": "Paediatric or syndromic cardiomyopathy", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.3", "version_created": "2024-05-03T11:02:12.224751Z", "relevant_disorders": [ "Cardiomyopathies - including childhood onset", "R135" ], "stats": { "number_of_genes": 225, "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 virtual gene panel for rare disease in the Test Directory." }, { "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-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": [ "ClinGen", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 14194598, 15519638 ], "tags": [], "panel": { "id": 846, "hash_id": null, "name": "Hereditary neuropathy or pain disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.8", "version_created": "2024-05-02T10:12:57.865626Z", "relevant_disorders": [ "Hereditary neuropathy NOT PMP22 copy number", "Hereditary neuropathy or pain disorder - NOT PMP22 copy number", "R78" ], "stats": { "number_of_genes": 312, "number_of_strs": 1, "number_of_regions": 2 }, "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": "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." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37436-Gain", "verbose_name": "17p12 recurrent (HNPP/CMT1A) region (includes PMP22) 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": [ "20301384" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 14194598, 15519638 ], "tags": [], "panel": { "id": 846, "hash_id": null, "name": "Hereditary neuropathy or pain disorder", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "4.8", "version_created": "2024-05-02T10:12:57.865626Z", "relevant_disorders": [ "Hereditary neuropathy NOT PMP22 copy number", "Hereditary neuropathy or pain disorder - NOT PMP22 copy number", "R78" ], "stats": { "number_of_genes": 312, "number_of_strs": 1, "number_of_regions": 2 }, "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": "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." } ] } } ] }