All individuals with variants in gene SLC6A8

331 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00037137 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037138 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037139 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037140 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037141 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037142 - - - - - Germany - - 0 - - ? developmental delay 1 1 Andreas Laner
00037143 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037144 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037145 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037146 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037147 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037148 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00164643 24123876-FamW10-2749 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, 3 affected males, unaffected carrier mother M no Netherlands - - 0 - - ID see paper; ... 1 3 Johan den Dunnen
00183047 23033978-Trio13 PubMed: de Ligt 2012 - M - Netherlands - - 0 - - ID see paper; … 1 1 Johan den Dunnen
00183122 25644381-FamD96 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183123 25644381-FamAU36 PubMed: Hu 2016 family, 2 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183124 25644381-FamP86 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183125 25644381-FamD150 PubMed: Hu 2016 family, 1 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00183137 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00185783 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 1.5; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185784 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts normal 1 1 Gajja Salomons
00185785 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts tested 1 1 Gajja Salomons
00185786 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts tested 1 1 Gajja Salomons
00185787 - PubMed: Cecil 2003 - F - United States - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185788 - PubMed: Cecil 2001, PubMed: degrauw 2002, PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185789 - PubMed: Bizzi 2002 - M - Italy - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio 4.5 1 1 Gajja Salomons
00185790 - PubMed: Bizzi 2002 - F - Italy - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185791 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.5; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185792 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 1.7; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185793 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185794 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185795 - PubMed: Hahn 2002 - M - United States - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185796 - PubMed: Hahn 2002 - F - United States - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185797 - PubMed: Hahn 2002 - F - United States - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185798 - PubMed: Rosenberg 2004 - M - Germany - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.3; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185799 - PubMed: Rosenberg 2004 - F - Germany - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185800 - PubMed: Rosenberg 2004 - M - Germany - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.3 1 1 Gajja Salomons
00185801 - PubMed: Rosenberg 2004 - F - Germany - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 0.28; creatine uptake cultured fibroblasts not deficient 1 1 Gajja Salomons
00185802 - PubMed: Rosenberg 2004 DNA status not tested M - Germany - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185803 - PubMed: Rosenberg 2004 DNA status not tested M - Germany - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185805 - PubMed: Rosenberg 2004 - M - - - - 0 - - Healthy/Control - 1 141 Gajja Salomons
00185806 - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - 0 - - ID - 1 1 Gajja Salomons
00185807 - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - 0 - - ID - 1 1 Gajja Salomons
00185808 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185818 - PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - M - - - - 0 - - Healthy/Control - 1 37 Gajja Salomons
00185819 - PubMed: Clark 2006 - M - - - - 0 - - ID - 1 3 Gajja Salomons
00185820 - PubMed: Betsalel 2010 - F - France - - 0 - - CCDS1;CDSX MRS brain reduced; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185821 - Journal: Wilcken 2008 - M - Australia - - 0 - - CCDS1;CDSX MRS brain low absent creatine; urinary creatine/creatinine ratio 3.4 1 1 Gajja Salomons
00185822 - PubMed: Schiaffino 2005 - M - Italy - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 3.6; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185823 - PubMed: Schiaffino 2005 - F - Italy - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185824 - PubMed: Betsalel 2010 - M - - - - 0 - - ID urinary creatine/creatinine ratio normal 1 3 Gajja Salomons
00185825 - PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX MRS brain near absent cr; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185826 - PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX MRS brain near absent cr; urinary creatine/creatinine ratio 3.2 1 1 Gajja Salomons
00185827 - PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 0.43 1 1 Gajja Salomons
00185828 - PubMed: degrauw 2002 - F - United States - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 0.24 1 1 Gajja Salomons
00185829 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185830 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185831 - PubMed: degrauw 2002, PubMed: Rosenberg 2007 - M - Austria - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio 2.9 / 3.6 1 1 Gajja Salomons
00185832 - PubMed: Rosenberg 2004 - M - France - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185833 - PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 1 Gajja Salomons
00185834 - PubMed: van de Kamp 2013 - F - France - - 0 - - CCDS1;CDSX MRS brain low creatine 1 1 Gajja Salomons
00185835 - PubMed: van de Kamp 2013 - M - France - - 0 - - CCDS1;CDSX MRS brain reduced creatine; urinary creatine/creatinine ratio increased; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185836 - PubMed: Rosenberg 2004, PubMed: Betsalel 2010 - M - - - - 0 - - Healthy/Control - 1 1 Gajja Salomons
00185837 - PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 1 Gajja Salomons
00185838 - PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 4 Gajja Salomons
00185839 - PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 2 Gajja Salomons
00185840 - PubMed: Betsalel 2010 - M - - - - 0 - - Healthy/Control - 1 35 Gajja Salomons
00185841 - PubMed: Clark 2006 - M - - - - 0 - - Healthy/Control - 1 1 Gajja Salomons
00185842 - PubMed: Clark 2006, PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 1 Gajja Salomons
00185843 - Journal: De Kort 2006 - M - - - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185844 - PubMed: van de Kamp 2013 - F - France - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185845 - PubMed: van de Kamp 2013 - F - France - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185846 - PubMed: van de Kamp 2013 - M - France - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio 4.0; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185847 - PubMed: Lion-Francois 2006 - M - France - - 0 - - CCDS1;CDSX MRS brain absent cr; urinary creatine/creatinine ratio 3.2 1 1 Gajja Salomons
00185848 - PubMed: Lion-Francois 2006 - F - France - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185849 - PubMed: Betsalel 2010 - M - France - - 0 - - ID urinary creatine/creatinine ratio increased? 1 1 Gajja Salomons
00185850 - PubMed: Betsalel 2010 - F - - - - 0 - - ID urinary creatine/creatinine ratio increased? 1 2 Gajja Salomons
00185851 - PubMed: van de Kamp 2013 - M - Netherlands - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio increased 1 1 Gajja Salomons
00185852 - PubMed: van de Kamp 2013 - M - Netherlands - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio increased 1 1 Gajja Salomons
00185853 - PubMed: van de Kamp 2013 - F - Netherlands - - 0 - - CCDS1;CDSX MRS brain jiddeke; creatine uptake cultured fibroblasts silvy 1 1 Gajja Salomons
00185854 - PubMed: van de Kamp 2013 - M - Belgium - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio 2.7; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185855 - PubMed: van de Kamp 2013 - F - United States - - 0 - - CCDS1;CDSX MRS brain reduced; urinary creatine/creatinine ratio increased 1 1 Gajja Salomons
00185856 - PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 1 Gajja Salomons
00185857 - PubMed: Betsalel 2010 - F - Germany - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185858 - PubMed: Betsalel 2010 - M - Germany - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio increased 1 1 Gajja Salomons
00185859 - PubMed: Betsalel 2010 - M - Germany - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio increased 1 1 Gajja Salomons
00185860 - PubMed: Clark 2006, PubMed: Betsalel 2010 - M - - - - 0 - - Healthy/Control - 1 3 Gajja Salomons
00185861 - PubMed: Clark 2006, PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 1 Gajja Salomons
00185862 - PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 1 Gajja Salomons
00185863 - PubMed: Lion-Francois 2006 - M - France - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio 2.7; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185864 - PubMed: Lion-Francois 2006 - F - France - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185865 - PubMed: Poo-Arguelles 2006 - M - Spain - - 0 - - CCDS1;CDSX MRS brain cr absent; urinary creatine/creatinine ratio 3.0 / 3.4; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185866 - PubMed: Poo-Arguelles 2006 - F - Spain - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185867 - PubMed: van de Kamp 2013 - M - Portugal - - 0 - - CCDS1;CDSX urinary creatine/creatinine ratio increased 1 1 Gajja Salomons
00185868 - PubMed: van de Kamp 2013 - F - Portugal - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185869 - PubMed: degrauw 2002 - M - United States - - 0 - - CCDS1;CDSX MRS brain severely decreased cr; urinary creatine/creatinine ratio 5.2; creatine uptake cultured fibroblasts deficient 1 1 Gajja Salomons
00185870 - PubMed: degrauw 2002 mutation appears to be mosaic, and was not detected in the mother F - United States - - 0 - - CCDS1;CDSX creatine uptake cultured fibroblasts normal 1 1 Gajja Salomons
00185871 - PubMed: Betsalel 2010 - M - - - - 0 - - ID - 1 10 Gajja Salomons
00185872 - PubMed: Clark 2006 - M - United States - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
00185873 - PubMed: Clark 2006, PubMed: Rosenberg 2007 - M - - - - 0 - - CCDS1;CDSX - 1 1 Gajja Salomons
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »