All individuals with variants in gene GPSM2

45 entries on 1 page. Showing entries 1 - 45.
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00081030 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - Chudley-McCullough syndrome Chudley-McCullough syndrome (OMIM:604213) 1 1 Daniel Trujillano
00227835 - - 4-generation family, 7 affecteds, unaffected heterozygous family members M yes Palestine - >26y 0 - - DFNB severe/profound hearing loss; no hearing aid; no motor delay; no communicative delay; no cognitive impairment; no ventriculomegaly; corpus callosum short and thin; heterotopia moderate; frontal polymicrogyria moderate; cerebellar dysplasia; moderate interhemispheric cyst 1 7 -
00227838 - - 4-generation family, unaffected parent F yes Palestine - - 0 - - Healthy/Control - 1 1 -
00227839 - - 4-generation family, unaffected heterozygous parent - yes Turkey - - 0 - - Healthy/Control - 1 1 -
00227840 - - - F ? United States Mennonite >17y 0 - - Chudley-McCullough syndrome severe/profound hearing loss; cochlear implant; no motor delay; no communicative delay; no cognitive impairment; hydrocephalus, foramen of Monro fenestration; corpus callosum probable partial agenesis; heterotopia unknown; frontal polymicrogyria unknown; cerebellar dysplasia unknown 2 1 -
00227841 - - - M ? United States Mennonite >21y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; no motor delay; mild, resolved communicative delay; no cognitive impairment; downslanting palpebral fissures, rotated ears, nasal voice; shunted hydrocephalus; corpus callosum probable partial agenesis; heterotopia unknown; frontal polymicrogyria unknown; cerebellar dysplasia unknown 2 1 -
00227842 - - - F ? United States European >2y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria extensive; cerebellar dysplasia; large interhemispheric and small left cerebellopontine angle cysts 2 1 -
00227843 - - - F ? Netherlands European >10y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; no motor delay; no communicative delay; mild, resolved cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; moderate interhemispheric cyst 2 1 -
00227844 - - - F ? Netherlands European >4y 0 - - Chudley-McCullough syndrome severe/profound hearing loss; cochlear implant; mild motor delay, mildly increased tone ; mild, resolving communicative delay; mild, resolved cognitive impairment; controlled seizures, breath holding; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; small pineal cyst 2 1 -
00227845 - - - F ? United States Mexican American >7y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia large; frontal polymicrogyria extensive; cerebellar dysplasia; large interhemispheric and small bilateral cerebellopontine angle cysts 2 1 -
00227846 - - - M ? United States Mexican American >6y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia moderate; frontal polymicrogyria extensive; cerebellar dysplasia; moderate interhemispheric and small right cerebellopontine angle cysts 2 1 -
00227847 - - - M ? United States Mennonite >1y 0 - - Chudley-McCullough syndrome severe hearing loss; cochlear implant; mild motor delay; mild communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia unable to score due to mass effect; large bilateral cerebellopontine angle cysts 2 1 -
00227848 - - - F ? United States Mennonite >25y 0 - - Chudley-McCullough syndrome severe hearing loss; cochlear implant; no motor delay; no communicative delay; no cognitive impairment; ventriculomegaly (R>L); corpus callosum posterior agenesis; heterotopia moderate; frontal polymicrogyria presentb; cerebellar dysplasia; 2 1 -
00227849 - - - M ? United States Mennonite >12y 0 - - Chudley-McCullough syndrome severe hearing loss; no hearing aid; no motor delay; communicative delay; mild cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria extensive; cerebellar dysplasia; no arachnoid cysts, right ventricle herniation into midline 2 1 -
00227850 - - - F ? United States Mennonite >15y 0 - - Chudley-McCullough syndrome severe hearing loss; no hearing aid; yes motor delay; communicative delay; mild/moderate cognitive impairment; seizures; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; left cerebellopontine angle cysts 2 1 -
00227851 - - - F ? United States Mennonite >4y 0 - - Chudley-McCullough syndrome profound hearing loss; cochlear implant; mild motor delay; mild communicative delay; mild cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia extensive; frontal polymicrogyria extensive; no cerebellar dysplasia; right cerebellopontine angle cysts 2 1 -
00227852 - - - F no Netherlands - - 0 - - Chudley-McCullough syndrome - 2 1 Gijs Santen
00227853 - - - F no Netherlands - - 0 - - Chudley-McCullough syndrome - 1 1 Gijs Santen
00227854 - - - F no Netherlands - - 0 - - Chudley-McCullough syndrome - 1 1 Gijs Santen
00227855 - - - - - - - - 0 - - Healthy/Control - 1 1 -
00227856 - - 4-generation family, affected IV1 F yes Turkey - >16y 0 - - DFNB severe/profound hearing loss; no hearing aid; no motor delay; no communicative delay; no cognitive impairment; no ventriculomegaly; corpus callosum short and thin; heterotopia small; frontal polymicrogyria subtle; no cerebellar dysplasia; moderate interhemispheric cyst 2 1 -
00227857 - - 4-generation family, affected IV2 M yes Turkey - >12y 0 - - DFNB severe/profound hearing loss; no hearing aid; no motor delay; no communicative delay; no cognitive impairment; no ventriculomegaly; corpus callosum short, severely thin posteriorly; heterotopia moderate; frontal polymicrogyria subtle; cerebellar dysplasia; small interhemispheric cyst 2 1 -
00227858 - - 4-generation family, affected IV3 M yes Turkey - >16y 0 - - DFNB severe/profound hearing loss; no hearing aid; no motor delay; no communicative delay; no cognitive impairment; no ventriculomegaly; corpus callosum short and thin; heterotopia small; frontal polymicrogyria subtle; mild on right; moderate interhemispheric cyst 2 1 -
00281928 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281929 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281930 - PubMed: Doherty 2012, PubMed: Walsh 2010, PubMed: Xiong 2015 - - - - - - 0 - - HL - 1 1 Global Variome, with Curator vacancy
00281931 - PubMed: Doherty 2012, PubMed: Duzkale 2013 - - - - - - 0 - - Chudley-McCullough syndrome - 1 1 Global Variome, with Curator vacancy
00281932 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281933 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281934 - PubMed: Doherty 2012 - - - - - - 0 - - Chudley-McCullough syndrome - 1 1 Global Variome, with Curator vacancy
00281935 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281936 - - - - - - - - 0 - - Chudley-McCullough syndrome - 1 1 Global Variome, with Curator vacancy
00281937 - - - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00281938 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281939 - PubMed: Doherty 2012, PubMed: Schrauwen 2013 - - - - - - 0 - - Chudley-McCullough syndrome - 1 1 Global Variome, with Curator vacancy
00281940 - PubMed: Diaz-Horta 2012 - - - - - - 0 - - Chudley-McCullough syndrome - 1 1 Global Variome, with Curator vacancy
00281941 - PubMed: Doherty 2012, PubMed: Yariz 2012 - - - - - - 0 - - HL - 1 1 Global Variome, with Curator vacancy
00281942 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00281943 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00289470 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 28 Mohammed Faruq
00289471 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00289472 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 258 Mohammed Faruq
00301084 - - - F - Germany - - 0 - - ? Abnormality of movement (HP:0100022); Intellectual disability (HP:0001249); Abnormality of nervous system physiology (HP:0012638); Abnormality of the cerebellum (HP:0001317); Cerebellar vermis hypoplasia (HP:0001320); Absent speech (HP:0001344); Gait imbalance (HP:0002141) 2 1 Andreas Laner
00304135 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304136 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 9 Mohammed Faruq
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