All individuals with variants in gene TANGO2

10 entries on 1 page. Showing entries 1 - 10.
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00050438 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - ? sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart 1 2 Johan den Dunnen
00050514 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema 1 1 Johan den Dunnen
00050542 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay 1 1 Johan den Dunnen
00050613 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy 1 1 Johan den Dunnen
00103913 28327206-PatBH5788_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? recurrent muscle weakness with rhabdomyolysis, metabolic crises, cardiac arrhythmia 1 1 Johan den Dunnen
00318017 PKMR45 PubMed: Riazuddin 2017 - - yes Pakistan Pathan - - - - ID Severe ID, speech delay, mild hypotonia, ADHD, epilepsy, aggressive, squint in one individual. 1 1 Johan den Dunnen
00361597 15DG0032 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID syndromic; developmental delay, hearing impairment, recurrent hypoglycemic attacks, subtle dysmorphism 1 1 Johan den Dunnen
00431301 Fam1PatII2 PubMed: Kremer 2016, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - Europe - - - - ? rhabdomyolysis); cardiac arhythmia; elevted TSH; no opthalmologic anomalies; cognitive impairment; epilepsy; spasticity; brain atrophy; hypoglycemia; elevated plasma lactate; hyperCKemia; ketonuria; elevated acylcarnitines; elevated dicarboxylic acids 2 1 Johan den Dunnen
00431302 Fam3PatII1 PubMed: Kremer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - - - - ? see paper; ..., >5 episodic metabolic/ncephalopathic crises; myopathy (weakness/rhabdomyolysis); cardiac arhythmia; elevted TSH; no opthalmologic anomalies; cognitive impairment (IQ 71); epilepsy; spasticity; brain atrophy; hypoglycemia; mildly elevated plasma lactate; hyperCKemia; ketonuria; mildly elevated acylcarnitines 1 1 Johan den Dunnen
00431303 Fam2PatII2 PubMed: Kremer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - ? see paper; ..., developmental delay; 4 episodic metabolic/ncephalopathic crises; myopathy (weakness/rhabdomyolysis); cardiac arhythmia; elevted TSH; optic atrophy; cognitive impairment; epilepsy; spasticity; brain atrophy; hypoglycemia; elevated plasma lactate; hyperCKemia; ketonuria; elevated acylcarnitines; elevated dicarboxylic acids 1 1 Johan den Dunnen
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