All individuals with variants in gene STAG2

14 entries on 1 page. Showing entries 1 - 14.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 4 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00374123 - PubMed: Lefebvre 2021 fetus F - France - - - - - ? 32w-fetus, ultrasound Cerebral asymmetry, corpus callosum hypoplasia, aortic coarctation, vertebral segmentation defect, common mesentery, cleft palate; autopsy intrauterine growth retardation, microcephaly, corpus callosum hypoplasia, optic nerve coloboma, haemivertebrae 1 1 Johan den Dunnen
00436291 Pat12 PubMed: Yuan 2019 - F - - - - - - - ? dysmorphic features, microcephaly, seizures 1 1 Johan den Dunnen
00436296 Pat7 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - ? no synophrys; thin upper lip; developmental delay; scoliosis; seizures?; diaphragmatic hernia,congenital heart disease, gastroesophageal reflux; weight 26th, length 34th, OFC 47th; no microcephaly; motor delay; speech delay; seizures, myoclonic movements; no brachycephaly; no ptosis; no hypertelorism; no depressed/broad nasal bridge; no bulbous nasal tip; dysmorphic ears; no high arched palate; thin upper lip; no cleft lip/palate; hypoplastic nails; no congenital heart defect, hypoplastic left heart, ventricular septal defect, coactation aorta; congenital diaphragmatic hernia; gastroesophageal reflux, Nissen and G-tube; no structural anomalies renal tract; scoliosis; rib fusion, T4-5, T10-11, bilateral; vertebral anomalies, vertebral clefts; no micromelia; no phocomelia; no brachydactyly; no single transverse palmar crease; no 2-3 toe syndactyly; ECG moderate hypoplasia transverse arch, moderate coarctation aorta, ventricular septal defect, moderate left pulmonary artery hypoplasia 1 1 Johan den Dunnen
00436297 Pat8 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - ? no synophrys; long eyelashes,long philtrum, absent teeth(late erupting), thin upper lip, micrognathia; developmental delay, intellectual disability; compulsive, anxiety; 5th finger clinodactyly, abnormal palmar crease,2-3 syndactyly; hirsutism, cutis marmorata, hearing loss; gastroesophageal reflux; failure to thrive; weight <2nd, length <2nd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; behavioral problems; hypotonia; brachycephaly; long curly eyelashes; no ptosis; no hypertelorism; no depressed/broad nasal bridge; microtia (right); dysmorphic ears; long/smooth philtrum; no high arched palate; thin upper lip; no cleft lip/palate; late-erupting teeth; micrognathia; no short neck; hirsutism; low, posterior hairline; cutis marmorata; strabismus; conductive hearing loss; low-pitched, growling cry in infancy; small nipples; gastroesophageal reflux; no micromelia; no phocomelia; fifth finger clinodactyly; single transverse palmar crease; 2-3 toe syndactyly 1 1 Johan den Dunnen
00436298 Pat9 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - ? no synophrys; long curly eyelashes, anteverted nares, high palate, downturned mouth,widely spaced teeth etc.; developmental delay, intellectual disability; major eye malformation, small niples; diaphragmatic hernia, gastroesophageal reflux; failure to thrive; weight 6th, length <2nd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; hypotonia; long curly eyelashes; no ptosis; hypertelorism; anteverted nares; depressed/broad nasal bridge; bulbous nasal tip; no low-set ears; no microtia; dysmorphic ears; long/smooth philtrum; thin upper lip; downturned mouth; widely spaced teeth; micrognathia; short neck; no congenital heart defect; congenital diaphragmatic hernia (right); pulmonary hypoplasia (right); gastroesophageal reflux; vertebral anomalies, vertebral clefts 1 1 Johan den Dunnen
00436299 Pat10 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents F - - - - - - - ? no synophrys; depressed broad nasal bridge,anteverted nares, micrognathia,high arched palate, absent teeth; developmental delay, intellectual disability; scoliosis; major eye malformation, seizures; no failure to thrive; weight 3rd, length 3rd, OFC 5-10th; short stature; microcephaly; motor delay; speech delay; no autism spectrum disorder; behavioral problems , irritability; izures, right sided with secondary generalization; no hypertonia; hypotonia; no brachycephaly; no long curly eyelashes; no ptosis; no hypertelorism; anteverted nares; depressed/broad nasal bridge; bulbous nasal tip; low-set ears; no microtia; dysmorphic ears; no long/smooth philtrum; narrow high arched palate; no thin upper lip; no downturned mouth, small mouth; no cleft lip/palate; late-erupting teeth, single central incisor; micrognathia; no short neck; hypoplastic nails, with pits; no hirsutism; ?; no myopia; no hearing loss; no congenital heart defect, no murmur; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples, but accessory nipple left side; no gastroesophageal reflux; 10m-normal renal ultrasound; scoliosis, dextroscoliosis; rib fusion; vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain callosal agenesis, colpocephaly of lateral ventricle atrium and occipital horns, no migrational anomaly, no infarct or extra-axial collection 1 1 Johan den Dunnen
00436300 Pat11 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected; non-carrier parents M - - - - - - - ? no synophrys; depressed broad nasal bridge,thin lips; developmental delay, intellectual disability; scoliosis; gastro-intestinal malformation, cleft palate, renal malformation; failure to thrive; weight 3rd, length <3rd, OFC 10-25th; short stature; no microcephaly; motor delay; speech delay; no behavioral problems; no seizures; no hypertonia; hypotonia; no long curly eyelashes; no ptosis; hypertelorism; no anteverted nares; depressed/broad nasal bridge; bulbous nasal tip; low-set ears; microtia; dysmorphic ears; no long/smooth philtrum; thin upper lip; no downturned mouth; cleft lip/palate; no widely spaced teeth; no late-erupting teeth; no micrognathia; no hypoplastic nails; no hirsutism; no cutis marmorata; no myopia; no strabismus; no hearing loss; minimal patent foramen ovale, resolved itself; no pulmonary hypoplasia; no recurrent infections; no gastroesophageal reflux; no hypoplastic male genitalia; no cryptorchidism; single kidney; scoliosis; no rib fusion; no vertebral anomalies; no micromelia; no phocomelia; no 2-3 toe syndactyly; MRI brain ectopic posterior pituitary, short pituitary stalk; 11 ribs, scoliosis; ECG minimal patent foramen ovale, resolved itself. Echocardiogram normal at follow up visit. 1 1 Johan den Dunnen
00436302 Pat1 PubMed: Mullegama 2017 2-generation family, 1 affected, unaffected; non-carrier parents F - United States - - - - - ? see paper; ..., weight 29th, length 8th, OFC 5th; short stature; microcephaly; developmental delay; speech delay; no autism spectrum disorder; behavioral problems; micrognathia, ear abnormalities, wide-set eyes, beaked or prominent nose, arched eyebrows, or low-set ears, cleft/arched palate; low, anterior hairline; hearing loss; congenital heart defect; fifth finger clinodactyly; 2-3 toe syndactyly; MRI brain dysgenesis splenium corpus callosum; ECG apical and muscular ventricular septal defect 1 1 Johan den Dunnen
00436303 Pat2 PubMed: Mullegama 2017 - F - - - - - - - ? see paper; ..., abnormality nervous system (HP:0000707), abnormality ear (HP:0000598), abnormality head or neck (HP:0000152), abnormal growth (HP:0001507), abnormality limbs (HP:0040064), abnormality skeletal system (HP:0000924) 1 1 Johan den Dunnen
00436304 Pat3 PubMed: Mullegama 2017 - - - - - - - - - ? see paper; ..., abnormality nervous system (HP:0000707), abnormality ear (HP:0000598), abnormality head or neck (HP:0000152), abnormality abdomen (HP:0001438), abnormality respiratory system (HP:0002086) 1 1 Johan den Dunnen
00459538 patient;PatA Corona-Rivera et al. (not paper listed), PubMed: Chmielewska 2024 2-generation family, 1 affected, mosaicism in mother F - Mexico Europe - - - - NDD see paper; ..., height <1st percentile, severe microcephaly; small forehead, prominent sagittal suture; increased tone in all extremities ; semilobar holoprosencephaly and microcephaly, small 3rd ventricle, formed but thin splenium of corpus callosum, partial thalamic fusion, complete basal ganglia fusion, dorsal interhemispheric fissural cyst; hypoplastic left heart syndrome; normal skin 1 1 Johan den Dunnen
00465874 334050 - prenatal Dx F no ? (unknown) - - - - - HPE13 Abnormality of prenatal development or birth, Spina bifida, Abnormal heart morphology, Abnormal fetal cardiovascular morphology, Single ventricle 1 1 Andreas Laner
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