Search Regions

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                "PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes",
                "610543"
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                "diaphragmatic hernia",
                "mild skeletal abnormalities",
                "uterine didelphys",
                "611867",
                "DiGeorge syndrome (DGS)",
                "clinodactyly",
                "velocardiofacial syndrome",
                "ADHD",
                "Goldenhar syndrome",
                "prematurity",
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                "PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies",
                "610443",
                "PMID: 25217958",
                "Koolen-De Vries syndrome 610443"
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            "entity_name": "ISCA-37392-Loss",
            "verbose_name": "7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss",
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                "194050",
                "Williams syndrome"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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            "entity_name": "ISCA-37417-Loss",
            "verbose_name": "Xp22.31 recurrent region (includes STS) Loss",
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                "Expert Review Green",
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            "phenotypes": [
                "Ichthyosis, X-linked",
                "308100"
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            "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females",
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                "name": "Autosomal recessive congenital ichthyosis",
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                "disease_sub_group": "Ichthyoses",
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                "version_created": "2019-06-20T15:14:56.521067Z",
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                "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"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                "name": "Familial Tumours Syndromes of the central & peripheral Nervous system",
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                "version_created": "2019-06-20T15:11:10.374253Z",
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                    "Familial tumour syndromes of the central and peripheral nervous system"
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                "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"
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                "utero-vaginal atresia",
                "Schizophrenia",
                "614527",
                "delayed development, intellectual disability",
                "Renal cysts and diabetes syndrome",
                "Autism Spectrum Disorder",
                "Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females",
                "Chromosome 17q12 deletion syndrome",
                "global developmental delay"
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                "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome",
                "194072"
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                "name": "Adult solid tumours for rare disease",
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                "176270",
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                "minor craniofacial anomalies",
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        {
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                "PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)",
                "612513",
                "PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect"
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                "repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop",
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
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                "118220",
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                "188400",
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                "facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay",
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                "Velocardiofacial syndrome",
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                "Learning difficulties"
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                "version": "1.59",
                "version_created": "2019-09-03T09:03:20.170928Z",
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                    "Familial non-syndromic cleft lip and or familial cleft palate",
                    "Familial non-syndromic clefting",
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                    "Syndromic clefting"
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                "DiGeorge syndrome"
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                "version": "1.59",
                "version_created": "2019-09-03T09:03:20.170928Z",
                "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"
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                "stats": {
                    "number_of_genes": 258,
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                    {
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                    {
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                    {
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                ]
            }
        },
        {
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            "verbose_name": "8p23.1 recurrent region (includes GATA4) Gain",
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                "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"
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                "relevant_disorders": [
                    "Familial non-syndromic cleft lip and or familial cleft palate",
                    "Familial non-syndromic clefting",
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                    "Syndromic clefting"
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                "stats": {
                    "number_of_genes": 258,
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                        "name": "Rare Disease 100K",
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                    {
                        "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"
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                ]
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        },
        {
            "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",
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            "penetrance": null,
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            "haploinsufficiency_score": "",
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                "19291772",
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                "18178630"
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                "Expert Review Green",
                "ClinGen"
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            "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",
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                "disease_sub_group": "Dysmorphic disorders",
                "status": "public",
                "version": "1.59",
                "version_created": "2019-09-03T09:03:20.170928Z",
                "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": 258,
                    "number_of_strs": 0,
                    "number_of_regions": 5
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                "types": [
                    {
                        "name": "Rare Disease 100K",
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                        "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."
                    },
                    {
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                        "description": "This panel is a component of a Super Panel"
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                ]
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            "gene_data": null,
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            "verbose_name": "22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain",
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            "triplosensitivity_score": "3",
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                "11693792",
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                "Expert Review Green",
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            "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"
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            "panel": {
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                "Expert Review Red",
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                "name": "Growth failure in early childhood",
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                "version_created": "2019-08-14T09:11:49.488162Z",
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                    "R147"
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                    "number_of_regions": 5
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                        "name": "GMS Rare Disease Virtual",
                        "slug": "gms-rare-disease-virtual",
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