Region Search List
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GET /api/v1/regions/?format=api&page=2
{ "count": 208, "next": "https://panelapp.genomicsengland.co.uk/api/v1/regions/?format=api&page=3", "previous": "https://panelapp.genomicsengland.co.uk/api/v1/regions/?format=api", "results": [ { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-46303-Loss", "verbose_name": "SOX9 upstream enhancer 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": [ "24934569", "26663529", "19234473" ], "evidence": [ "ClinGen", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 69896855, 71796293 ], "tags": [], "panel": { "id": 81, "hash_id": "57acb8268f620364dc61afd3", "name": "Clefting", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "status": "public", "version": "4.110", "version_created": "2024-04-24T15:59:12.897324Z", "relevant_disorders": [ "Familial non-syndromic cleft lip and or familial cleft palate", "Familial non-syndromic clefting", "Syndromic cleft lip and or cleft palate", "Syndromic clefting" ], "stats": { "number_of_genes": 306, "number_of_strs": 0, "number_of_regions": 6 }, "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-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": 81, "hash_id": "57acb8268f620364dc61afd3", "name": "Clefting", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "status": "public", "version": "4.110", "version_created": "2024-04-24T15:59:12.897324Z", "relevant_disorders": [ "Familial non-syndromic cleft lip and or familial cleft palate", "Familial non-syndromic clefting", "Syndromic cleft lip and or cleft palate", "Syndromic clefting" ], "stats": { "number_of_genes": 306, "number_of_strs": 0, "number_of_regions": 6 }, "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": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", "triplosensitivity_score": "3", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "19291772", "18417549", "18178630" ], "evidence": [ "Expert Review Green", "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": [], "panel": { "id": 81, "hash_id": "57acb8268f620364dc61afd3", "name": "Clefting", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "status": "public", "version": "4.110", "version_created": "2024-04-24T15:59:12.897324Z", "relevant_disorders": [ "Familial non-syndromic cleft lip and or familial cleft palate", "Familial non-syndromic clefting", "Syndromic cleft lip and or cleft palate", "Syndromic clefting" ], "stats": { "number_of_genes": 306, "number_of_strs": 0, "number_of_regions": 6 }, "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-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": [ "15889418", "20301696", "15545748" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "188400", "immune deficiency", "renal anomalies", "22q11.2 deletion syndrome", "192430", "facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay", "cleft palate, polydactyly", "polyhydramnios", "Velocardiofacial syndrome", "diaphragmatic hernia", "DiGeorge syndrome", "congenital heart disease", "Learning difficulties" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 18924718, 20299685 ], "tags": [], "panel": { "id": 81, "hash_id": "57acb8268f620364dc61afd3", "name": "Clefting", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "status": "public", "version": "4.110", "version_created": "2024-04-24T15:59:12.897324Z", "relevant_disorders": [ "Familial non-syndromic cleft lip and or familial cleft palate", "Familial non-syndromic clefting", "Syndromic cleft lip and or cleft palate", "Syndromic clefting" ], "stats": { "number_of_genes": 306, "number_of_strs": 0, "number_of_regions": 6 }, "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-37423-Gain", "verbose_name": "8p23.1 recurrent region (includes GATA4) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "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": [ "watchlist" ], "panel": { "id": 81, "hash_id": "57acb8268f620364dc61afd3", "name": "Clefting", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "status": "public", "version": "4.110", "version_created": "2024-04-24T15:59:12.897324Z", "relevant_disorders": [ "Familial non-syndromic cleft lip and or familial cleft palate", "Familial non-syndromic clefting", "Syndromic cleft lip and or cleft palate", "Syndromic clefting" ], "stats": { "number_of_genes": 306, "number_of_strs": 0, "number_of_regions": 6 }, "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-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": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "188400", "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", "micrognathia", "clefting", "Hearing deficits", "Velocardiofacial syndrome", "cardiac malformations", "DiGeorge syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 18924718, 21111383 ], "tags": [], "panel": { "id": 81, "hash_id": "57acb8268f620364dc61afd3", "name": "Clefting", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "status": "public", "version": "4.110", "version_created": "2024-04-24T15:59:12.897324Z", "relevant_disorders": [ "Familial non-syndromic cleft lip and or familial cleft palate", "Familial non-syndromic clefting", "Syndromic cleft lip and or cleft palate", "Syndromic clefting" ], "stats": { "number_of_genes": 306, "number_of_strs": 0, "number_of_regions": 6 }, "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-37392-Loss", "verbose_name": "7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": null, "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "20301427" ], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Williams-Beuren syndrome, OMIM:194050" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "7", "grch37_coordinates": null, "grch38_coordinates": [ 73330452, 74728172 ], "tags": [], "panel": { "id": 473, "hash_id": null, "name": "Growth failure in early childhood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.94", "version_created": "2024-04-24T16:40:00.657978Z", "relevant_disorders": [ "R147" ], "stats": { "number_of_genes": 162, "number_of_strs": 0, "number_of_regions": 5 }, "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 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-37406-Loss", "verbose_name": "16p13.3 region (includes CREBBP) 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": [ "16783566", "10573006" ], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Chromosome 16p13.3 deletion syndrome, OMIM:610543" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "16", "grch37_coordinates": null, "grch38_coordinates": [ 3725055, 3880120 ], "tags": [], "panel": { "id": 473, "hash_id": null, "name": "Growth failure in early childhood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.94", "version_created": "2024-04-24T16:40:00.657978Z", "relevant_disorders": [ "R147" ], "stats": { "number_of_genes": 162, "number_of_strs": 0, "number_of_regions": 5 }, "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 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": "1", "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 Red", "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": 473, "hash_id": null, "name": "Growth failure in early childhood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.94", "version_created": "2024-04-24T16:40:00.657978Z", "relevant_disorders": [ "R147" ], "stats": { "number_of_genes": 162, "number_of_strs": 0, "number_of_regions": 5 }, "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 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": "1", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "3", "triplosensitivity_score": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "25217958", "18628315" ], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Koolen-De Vries syndrome, OMIM:610443", "Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 45627800, 46087514 ], "tags": [], "panel": { "id": 473, "hash_id": null, "name": "Growth failure in early childhood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.94", "version_created": "2024-04-24T16:40:00.657978Z", "relevant_disorders": [ "R147" ], "stats": { "number_of_genes": 162, "number_of_strs": 0, "number_of_regions": 5 }, "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 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-37397-Loss", "verbose_name": "22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) 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": [ "18179902", "23765049", "21671380" ], "evidence": [ "Expert Review Red", "ClinGen" ], "phenotypes": [ "Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 21562828, 23306924 ], "tags": [], "panel": { "id": 473, "hash_id": null, "name": "Growth failure in early childhood", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.94", "version_created": "2024-04-24T16:40:00.657978Z", "relevant_disorders": [ "R147" ], "stats": { "number_of_genes": 162, "number_of_strs": 0, "number_of_regions": 5 }, "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 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", "NHS GMS", "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": 402, "hash_id": null, "name": "Early onset or syndromic epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Inherited Epilepsy Syndromes", "status": "public", "version": "4.196", "version_created": "2024-04-24T16:35:47.828337Z", "relevant_disorders": [ "Epilepsy Plus", "Epilepsy plus other features", "Genetic Epilepsy Syndromes", "Epileptic encephalopathy", "Familial Focal Epilepsies", "Familial Genetic Generalised Epilepsies", "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)", "Genetic Epilepsies with Febrile Seizures Plus", "Early onset or syndromic epilepsy", "Genetic epilepsy syndromes", "R59" ], "stats": { "number_of_genes": 828, "number_of_strs": 2, "number_of_regions": 17 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37411-Loss", "verbose_name": "15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) 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": [ "19289393", "19136953", "18278044" ], "evidence": [ "NHS GMS", "Expert Review Green", "ClinGen" ], "phenotypes": [ "PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems", "612001", "PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms", "PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as 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"number_of_regions": 17 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-46290-Gain", "verbose_name": "Xp11.22p11.23 recurrent region (includes SHROOM4) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", 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Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep", "300801" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "chromosome": "X", "grch37_coordinates": null, "grch38_coordinates": [ 48447780, 52444264 ], "tags": [], "panel": { "id": 402, "hash_id": null, "name": "Early onset or syndromic epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Inherited Epilepsy Syndromes", "status": "public", "version": "4.196", "version_created": "2024-04-24T16:35:47.828337Z", "relevant_disorders": [ "Epilepsy Plus", "Epilepsy plus other features", "Genetic Epilepsy Syndromes", "Epileptic encephalopathy", "Familial Focal Epilepsies", "Familial Genetic Generalised Epilepsies", "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)", "Genetic Epilepsies with Febrile Seizures Plus", "Early onset or syndromic epilepsy", "Genetic epilepsy syndromes", "R59" ], "stats": { "number_of_genes": 828, "number_of_strs": 2, "number_of_regions": 17 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37423-Gain", "verbose_name": "8p23.1 recurrent region (includes GATA4) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", "triplosensitivity_score": "2", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "21933911", "23345203" ], "evidence": [ "NHS GMS", "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). 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"4.196", "version_created": "2024-04-24T16:35:47.828337Z", "relevant_disorders": [ "Epilepsy Plus", "Epilepsy plus other features", "Genetic Epilepsy Syndromes", "Epileptic encephalopathy", "Familial Focal Epilepsies", "Familial Genetic Generalised Epilepsies", "Genetic Epilepsies with Febrile Seizures Plus (GEFS+)", "Genetic Epilepsies with Febrile Seizures Plus", "Early onset or syndromic epilepsy", "Genetic epilepsy syndromes", "R59" ], "stats": { "number_of_genes": 828, "number_of_strs": 2, "number_of_regions": 17 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a 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"cnv_loss", "publications": [ "19843651", "18550696", "24246141" ], "evidence": [ "NHS GMS", "Expert Review Green", "ClinGen" ], "phenotypes": [ "PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "16", "grch37_coordinates": null, "grch38_coordinates": [ 15417854, 16198408 ], "tags": [], "panel": { "id": 402, "hash_id": null, "name": "Early onset or syndromic epilepsy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Inherited Epilepsy Syndromes", "status": "public", "version": "4.196", "version_created": "2024-04-24T16:35:47.828337Z", "relevant_disorders": [ "Epilepsy Plus", "Epilepsy plus other features", "Genetic 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"number_of_regions": 17 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" } ] } }, { "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", 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Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 16906714, 20309889 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37418-Loss", "verbose_name": "17p11.2 recurrent (SMS/PLS) region (includes RAI1) 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": [ "Smith-Magenis syndrome, OMIM:182290", "Smith-Magenis syndrome, MONDO:0008434" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 16906714, 20309889 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37443-Loss", "verbose_name": "3q29 recurrent region (includes DLG1) 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": [ ". mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes. primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth", "1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425", "Chromosome 3q29 microdeletion syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "3", "grch37_coordinates": null, "grch38_coordinates": [ 196029183, 197617791 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37392-Gain", "verbose_name": "7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) 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": [ "26610320" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "intellectual disability", "609757", "behavior problems", "abnormal gait and station", "cardiovascular disease", "phonologic disorders", "distinctive facial features", "neurologic abnormalities", "speech sound disorders" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "7", "grch37_coordinates": null, "grch38_coordinates": [ 73330452, 74728172 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - 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microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37494-Gain", "verbose_name": "Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) 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": [ "25927380", "21984752", "24357492" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Chromosome Xq28 duplication syndrome, 300815", "X linked intellectual disability (XLID)", "PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features", "duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes", "PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip)", "PMID:24357492 Cognitive impairment in male patients" ], "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": [ 154890328, 155335092 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37421-Loss", "verbose_name": "1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) 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", "612474", "Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts", "mild to moderate developmental delay" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "1", "grch37_coordinates": null, "grch38_coordinates": [ 147105904, 147917509 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37494-Loss", "verbose_name": "Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) 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": [ "25927380", "21984752" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features", "deletion results in skewed chromosome X inactivation and no clinical phenotype in females", "PMID: 21984752 in utero male lethality with deletions" ], "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": [ 154890328, 155335092 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "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 tone", "severe intellectual disability", "exiting behavior", "short stature", "eleveated serotonin levels", "autistic features", "lip-smacking", "hypotonia", "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": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "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": "", "required_overlap_percentage": 60, "type_of_variants": "cnv_loss", "publications": [ "25402011", "23188045" ], "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. 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PMID 22495764: Inter and intra individual variability of phenotype, mosaic. 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microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "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": [ "18374305", "16840569", "9106540" ], "evidence": [ "ClinGen", "Other", "Expert Review Green" ], "phenotypes": [ "hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636", "chromosome 15q11-q13 duplication syndrome", "autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 23465365, 28134728 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37415-Gain", "verbose_name": "16p13.11 recurrent region (includes MYH11) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "haploinsufficiency_score": "", "triplosensitivity_score": "2", "required_overlap_percentage": 60, "type_of_variants": "cnv_gain", "publications": [ "23637818", "24352232", "21614007", "30287593" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Intellectual disability", "Developmental delay", "Autism", "Aortopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "16", "grch37_coordinates": null, "grch38_coordinates": [ 15417854, 16198408 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "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": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37423-Loss", "verbose_name": "8p23.1 recurrent region (includes GATA4) 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": [ "23239632", "20969981" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. 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": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "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": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37500-Loss", "verbose_name": "15q25.2 recurrent region (LCR B-C, proximal) 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": [ "23166063", "17847001", "24352913" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "mild to moderate cognitive deficit", "Diamond-Blackfan anemia", "intellectual disability", "614294", "anemia", "congenital diaphragmatic hernia", "cryptorchidism in males", "severe speech and psychomotor delay", "mental retardation", "postnatal short stature", "behavioral problem", "mild dysmorphic feature", "developmental delay" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 82534140, 84045981 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-46290-Gain", "verbose_name": "Xp11.22p11.23 recurrent region (includes SHROOM4) 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": [ "25425167", "19716111", "21418194" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep", "300801" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "chromosome": "X", "grch37_coordinates": null, "grch38_coordinates": [ 48447780, 52444264 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37423-Gain", "verbose_name": "8p23.1 recurrent region (includes GATA4) Gain", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "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": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "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": [ "15889418", "20301696", "15545748" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "188400", "immune deficiency", "renal anomalies", "22q11.2 deletion syndrome", "192430", "facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay", "cleft palate, polydactyly", "polyhydramnios", "Velocardiofacial syndrome", "diaphragmatic hernia", "DiGeorge syndrome", "congenital heart disease", "Learning difficulties" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 18924718, 20299685 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37425-Loss", "verbose_name": "5q35 recurrent (Sotos syndrome) region (includes NSD1) 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": [ "macrocephaly, overgrowth and advanced bone age", "colpocephaly", "Sotos syndrome", "macrocephaly", "117550", "rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "5", "grch37_coordinates": null, "grch38_coordinates": [ 176301976, 177620792 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37430-Gain", "verbose_name": "17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) 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": [ "23813913", "19520700", "19136950" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "613215", "Chromosome 17p13.3 duplication syndrome", "variable psychomotor delay and dysmorphic features", "17q11.2 microduplication syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 1344539, 2685615 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "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": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37397-Gain", "verbose_name": "22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) 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": [ "18414210", "22140377", "19193630" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "seizures", "failure to thrive", "ADHD", "heart defects", "speech disturbances", "hypernasal speech", "hearing impariment", "abnormal behaviour", "developmental delay", "hypotonia", "micro- or macrocephaly" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "22", "grch37_coordinates": null, "grch38_coordinates": [ 21562828, 23306924 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "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", "105830" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "15", "grch37_coordinates": null, "grch38_coordinates": [ 22782170, 28134728 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37421-Gain", "verbose_name": "1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) 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": [ "3298277", "3817079" ], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "Chromosome 1q21.1 duplication syndrome", "ncomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis", "612475", "1q21.1 microduplication syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "1", "grch37_coordinates": null, "grch38_coordinates": [ 147105904, 147917509 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - microarray and sequencing", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neurodevelopmental disorders", "status": "public", "version": "5.544", "version_created": "2024-04-24T16:43:51.688324Z", "relevant_disorders": [ "Coarse facial features including Coffin-Siris-like disorders", "ID", "Moderate", "severe or profound intellectual disability", "Schizophrenia plus additional features", "Intellectual disability - microarray", "fragile X and sequencing", "Intellectual disability", "R29" ], "stats": { "number_of_genes": 2685, "number_of_strs": 12, "number_of_regions": 62 }, "types": [ { "name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K" }, { "name": "GMS Rare Disease Virtual", "slug": "gms-rare-disease-virtual", "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory." }, { "name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel" }, { "name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS." } ] } }, { "gene_data": null, "entity_type": "region", "entity_name": "ISCA-37432-Gain", "verbose_name": "17q12 recurrent (RCAD syndrome) region (includes HNF1B) 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": [], "evidence": [ "Expert Review Green", "ClinGen" ], "phenotypes": [ "developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia", "Speech and language delay", "Seizures (not all)", "Chromosome 17q12 duplication syndrome", "614526", "Behavioural difficulties" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "chromosome": "17", "grch37_coordinates": null, "grch38_coordinates": [ 36458167, 37854616 ], "tags": [], "panel": { "id": 285, "hash_id": "558aa423bb5a16630e15b63c", "name": "Intellectual disability - 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null, "entity_type": "region", "entity_name": "ISCA-37478-Loss", "verbose_name": "15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss", "confidence_level": "2", "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 Amber", "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": 31, "hash_id": "5763f2938f620350a1996046", "name": "Congenital hypothyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "status": "public", "version": "2.18", "version_created": "2023-11-30T12:12:27.487017Z", "relevant_disorders": [ "Congenital hypothyroidism or thyroid agenesis", "R145" ], "stats": { "number_of_genes": 35, "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": "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", "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": 48, "hash_id": "564cbd3622c1fc10dcb42ac7", "name": "RASopathies", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "RASopathies", "status": "public", "version": "1.81", "version_created": "2024-04-15T15:31:12.716809Z", "relevant_disorders": [ "Cardio-facio-cutaneous syndrome", "Costello syndrome", "LEOPARD syndrome", "Legius syndrome", "Noonan syndrome", "Noonan syndrome plus other features" ], "stats": { "number_of_genes": 25, "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-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": 509, "hash_id": null, "name": "Structural eye disease", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "3.77", "version_created": "2024-04-15T15:47:13.744089Z", "relevant_disorders": [ "R36" ], "stats": { "number_of_genes": 496, "number_of_strs": 0, "number_of_regions": 2 }, "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-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": "3.77", "version_created": "2024-04-15T15:47:13.744089Z", "relevant_disorders": [ "R36" ], "stats": { "number_of_genes": 496, "number_of_strs": 0, "number_of_regions": 2 }, "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." } ] } } ] }