All individuals with variants in gene TCTN2

26 entries on 1 page. Showing entries 1 - 26.
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00017626 - - - M yes Turkey - - 0 - - JBTS1 Polydactyly, postaxial; Delayed psychomotor development; hypotonia; frontally pronounced polymicrogyria, cerebellar hypoplasia and myelinisation defects; nystagmus and hyperopia; ´molar tooth sign´; ataxia 1 1 Valeska Frank
00017798 - PubMed: Sang 2011 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - 0 - - JBTS1 cerebellar vermis aplasia, hypotonia, no evidence renal disease 1 1 Johan den Dunnen
00017799 - PubMed: Sang 2011 1 affected, unaffected heterozygous carrier parents M yes India India, east - 0 - - JBTS1 gross motor/communication delays, increased tone/reflexes, bilateral talipes equinovarus deformity (clubfeet); 15m no evidence cardiovascular/renal/liver disease (ultrasound, laboratory testing, brain MRI revealed molar tooth sign 1 1 Johan den Dunnen
00017800 - PubMed: Sang 2011 famiy, 4 affected siblings, unaffected heterozygous carrier parents - yes Pakistan - - 0 - - JBTS1 all 4 childhood-onset Joubert Syndrome, extremely poor learning abilities; brain MRI molar tooth sign 1 4 Johan den Dunnen
00056054 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - JBTS Joubert syndrome 1 1 Christopher Watson
00056055 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS1 Meckel-Gruber syndrome 1 1 Christopher Watson
00056056 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS1 Meckel-Gruber syndrome 1 1 Christopher Watson
00056057 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - 0 - - MKS1 Meckel-Gruber syndrome 1 1 Christopher Watson
00225720 23169490-FamMKS_F4 PubMed: Shaheen 2013 - - - Saudi Arabia - - 0 - - MKS see paper; ... 1 1 Johan den Dunnen
00225721 23169490-FamMKS_F9 PubMed: Shaheen 2013 - - - Saudi Arabia - - 0 - - MKS see paper; ... 1 1 Johan den Dunnen
00290630 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 15 Mohammed Faruq
00290631 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 24 Mohammed Faruq
00303054 Pat99 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown 1 1 Johan den Dunnen
00304333 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00372317 UW144-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372318 UW212-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 2 1 LOVD
00372319 UW225-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372320 UW225-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372321 UW225-8 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372322 UW228-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372323 UW266-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00387605 - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - retinal disease - 1 1 LOVD
00387606 - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - retinal disease - 2 1 LOVD
00387607 - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - retinal disease - 2 1 LOVD
00387608 - PubMed: Watson 2016 Shaheen R, 2011 - - - - - 0 - - retinal disease - 2 1 LOVD
00391593 024P - - M no Spain - - - - - ? - 2 1 Alejandro Brea-Fernández
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