All individuals with variants in gene TTC21B

31 entries on 1 page. Showing entries 1 - 31.
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00028949 1-44 Pat19 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 1 1 Sanne Savelberg
00050473 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? generalized myoclonic seizures, generalized tonic-clonic seizures, developmental regression, postnatal microcephaly, supernumerary nipples, brachycephaly, small feet, intellectual disability profound 1 1 Johan den Dunnen
00265203 Pat PubMed: Kiselev 2019 - F - Sweden - - 0 - - MD see paper; ..., cardiomyopathy, limb-girdle type muscular dystrophy 1 1 Johan den Dunnen
00292312 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00292313 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292314 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292315 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00308693 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00309439 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309440 - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - retinal disease - 1 1 Global Variome, with Curator vacancy
00331588 17DG0098 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - skeletal dysplasia Stillbirth, Hydrocephalus, Anencephaly, Renal agenesis 1 1 LOVD
00377775 - PubMed: Otto 2011 heterozygous mutation identified in mother - - Turkey - - 0 - - retinal disease ophistotonus, mental retardation, situs inversus,vitium cordis,bronchiectasis 2 1 LOVD
00377776 - PubMed: Otto 2011 homozygous mutation identified in mother - - - Swiss - 0 - - retinal disease situs inversus,vesicoureteral reflux 2 1 LOVD
00377777 - PubMed: Otto 2011 Homozygous mutation identified in mother - - - Portuguese - 0 - - retinal disease situs inversus, short phalanges,retinal dystrophy 2 1 LOVD
00377793 - PubMed: Otto 2011 - - no - Arab - 0 - - retinal disease - 1 1 LOVD
00377794 - PubMed: Otto 2011 - - no United Kingdom (Great Britain) - - 0 - - retinal disease - 1 1 LOVD
00377795 - PubMed: Otto 2011 - - no United States - - 0 - - retinal disease - 1 1 LOVD
00380533 WHP118 PubMed: Sun 2018 - M - China - - 0 - - ? - 2 1 LOVD
00380535 WHP132 PubMed: Sun 2018 - F - China - - 0 - - ? - 2 1 LOVD
00385224 - PubMed: Redin-2012 - - - India - - 0 - - retinal disease - 1 1 LOVD
00385241 - PubMed: Redin-2012 - - - - - - 0 - - retinal disease - 1 1 LOVD
00385242 - PubMed: Redin-2012 - - - - - - 0 - - retinal disease - 1 1 LOVD
00385699 - - - F - Morocco - - - - - FSGS - 1 1 Martina Marangoni
00386901 OGI628_001291 PubMed: Zampaglione-2020 - ? - - - - 0 - - retinal disease - 1 1 LOVD
00386906 OGI664_001341 PubMed: Zampaglione-2020 - ? - - - - 0 - - retinal disease - 1 1 LOVD
00388412 R03-101 PubMed: Zhang-2019 - - - - African American - 0 - - ? - 3 1 LOVD
00388413 R08-045A PubMed: Zhang-2019 - - - - Caucasian - 0 - - ? - 2 1 LOVD
00388414 R97-091 PubMed: Zhang-2019 - - - - Caucasian - 0 - - ? - 2 1 LOVD
00388464 R02-109 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - African American - 0 - - ? - 1 1 LOVD
00388465 R94-040 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - Caucasian - 0 - - ? - 1 1 LOVD
00388469 R95-149 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - Caucasian - 0 - - ? - 1 1 LOVD
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