All individuals with variants in gene TMEM237

31 entries on 1 page. Showing entries 1 - 31.
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AscendingIndividual ID     

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Remarks     

Gender     

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Population     

Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

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Owner     
00028949 1-44 Pat19 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 1 1 Sanne Savelberg
00056063 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS1 Meckel-Gruber syndrome 1 1 Christopher Watson
00117485 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 encephalocele;cystic kidney; 1 1 Lijia Huang
00117486 - PubMed: Boycott 2007, PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; posterior fossa abnormality; hydrocephalus; cystic kidney; nystagmus; strabismus; optic atrophy 1 1 Lijia Huang
00117487 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; posterior fossa abnormality; hydrocephalus; encephalocele; cystic kidney; Nystagmus; strabismus 1 1 Lijia Huang
00117488 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 cerebellar vermis hypoplasia; nystagmus; strabismus 1 1 Lijia Huang
00117489 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 cerebellar vermis hypoplasia; nystagmus; strabismus 1 1 Lijia Huang
00117490 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased M yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; nystagmus; strabismus; coloboma;intracranial bleed 1 1 Lijia Huang
00117491 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 encephalocele; hydrocephalus; cystic kidney; cleft palate 1 1 Lijia Huang
00117492 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 hydrocephalus; cystic kidney;postaxial polydactyly 1 1 Lijia Huang
00117493 - PubMed: Boycott 2007, PubMed: Huang 2011 - F yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; encephalocele; cystic kidney; nystagmus; strabismus; coloboma; ventricular septal defect 1 1 Lijia Huang
00117494 - PubMed: Boycott 2007, PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 encephalocele; hydrocephalus; Dandy-Walker variant; cystic kidney; nystagmus; strabismus 1 1 Lijia Huang
00117495 - PubMed: Boycott 2007, PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; posterior fossa abnormality; cystic kidney; nystagmus; strabismus 1 1 Lijia Huang
00117496 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney 1 1 Lijia Huang
00117497 - PubMed: Huang 2011 deceased F yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; encephalocele; cystic kidney; nystagmus 1 1 Lijia Huang
00117498 - PubMed: Huang 2011 - M yes Canada Hutterite - 0 - - JBTS14 molar tooth sign; Dandy-Walker variant; hydrocephalus; cystic kidney; nystagmus 1 1 Lijia Huang
00117499 - PubMed: Huang 2011 - F no (United States) Hispanic;European - 0 - - JBTS14 molar tooth sign; hydrocephalus; posterior fossa abnormality; cortical visual impairment; cystic kidney; nystagmus; strabismus 2 1 Lijia Huang
00117500 - PubMed: Janecke 2004, PubMed: Huang 2011 deceased F yes Austria - - 0 - - JBTS14 cerebellar vermis aplasia; cystic kidney; morning glory disc anomaly; 1 1 Lijia Huang
00117501 - PubMed: Janecke 2004, PubMed: Huang 2011 fetus died at 22 weeks - yes Austria - - 0 - - JBTS14 hydrocephalus; cerebellar vermis aplasia; corpus callosum hypoplasia; meningocele; cystic kidney; morning glory disc anomaly 1 1 Lijia Huang
00117502 - PubMed: Janecke 2004, PubMed: Huang 2011 - F yes Austria - - 0 - - JBTS14 cerebellar vermis aplasia; brain stem hypoplasia; cystic kidney; nystagmus; morning glory disc anomaly 1 1 Lijia Huang
00117503 23169490-MKS_F1 PubMed: Shaheen 2013 - - yes Saudi Arabia - - 0 - - MKS see paper; ... 1 1 Anas M Alazami
00117504 - PubMed: Huang 2011 - M yes Jordan - - 0 - - JBTS14 meningomyelocele; cortical visual impairment 1 1 Lijia Huang
00292541 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 72 Mohammed Faruq
00304776 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00358953 Case70052 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00372342 UW098-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00377691 474 PubMed: Brooks 2018 family 83 F - United States - - 0 - - retinal disease kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, coloboma - retina 2 1 LOVD
00379586 - PubMed: alazami-2012 - - - Saudi Arabia - - 0 - - retinal disease - 1 2 LOVD
00387614 - PubMed: Watson 2016 Iannicelli M,2010. Khaddour R,2007. Doherty D,2010 - - - - - 0 - - retinal disease - 1 1 LOVD
00388098 474 PubMed: Summers 2017 - - - United States - - 0 - - retinal disease - 2 1 LOVD
00408800 JS_F4 PubMed: Alazami 2012 - F yes - - - 0 - - JBTS prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, no oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find 1 1 LOVD
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