All individuals with variants in gene DKC1

82 entries on 1 page. Showing entries 1 - 82.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000021 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 7 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 6 1 Yu Sun
00050693 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? drooling, unsteady gait, abnormal facial shape, lactose intolerance 1 1 Johan den Dunnen
00105827 10364516-FamDCR041 PubMed: Knight 1999 multiplex family - - United Arab Emirates - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 SIB - Livia Famiglietti
00105828 09590285-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105829 12437656-Pat {PMIDCossu 2002:12437656} - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome 1 1 SIB - Livia Famiglietti
00105830 10364516-FamDCR008 PubMed: Knight 1999 - F - United Kingdom (Great Britain) - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 2 2 SIB - Livia Famiglietti
00105831 09590285-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105832 10364516-FamDCR038 PubMed: Knight 1999 - - - Turkey - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 2 1 SIB - Livia Famiglietti
00105833 10583221-FamB PubMed: Knight 1999 3-generation family, 3 affected nephews, unaffected carrier mothers M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS aplastic anaemia, immunodeficiency, cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) 1 3 SIB - Livia Famiglietti
00105834 18802941-Pat PubMed: Kumikova 2009 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105835 10364516-FamDCR033 PubMed: Knight 1999 - - - Germany - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 SIB - Livia Famiglietti
00105836 10364516-FamNIMGS515 PubMed: Knight 1999 - - - United States - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome 1 1 SIB - Livia Famiglietti
00105837 17417794-Pat PubMed: Hamidah 2008 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105838 09590285-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105839 10583221-FamA PubMed: Knight 1999 2-generation family, 2 affected brothers, unaffected carrier mother M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS aplastic anaemia, immunodeficiency, cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) 1 2 SIB - Livia Famiglietti
00105840 19879169-Pat PubMed: Rostamiani 2010 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105841 10364516-FamDCR009 PubMed: Knight 1999 - - - Italy - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 2 SIB - Livia Famiglietti
00105842 19879169-Pat PubMed: Rostamiani 2010 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105843 10364516-FamDCR031 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 SIB - Livia Famiglietti
00105844 10364516-FamDCR021 PubMed: Knight 1999 - - - Austria - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 SIB - Livia Famiglietti
00105845 15304085-Pat PubMed: Ding 2004 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105846 10364516-FamDCR004 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - DKCX;HHS X-linked recessive dyskeratosis 1 1 SIB - Livia Famiglietti
00105847 10364516-FamDCR027 PubMed: Knight 1999 - - - India - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 SIB - Livia Famiglietti
00105848 09590285-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS - 1 1 SIB - Livia Famiglietti
00105849 15304085-Pat PubMed: Ding 2004 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 SIB - Livia Famiglietti
00105850 19377476-Pat PubMed: Tarpey 2009 - - - - - - 0 - - MRX;IDX - 1 5 Johan den Dunnen
00105851 11379875-PatDCR-035 PubMed: Knight 2001 2-generated family, 2 affected brothers and unaffected carrier mother M no United Kingdom (Great Britain) - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 3 Johan den Dunnen
00105852 11054058-Pat PubMed: Dokal 2000 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105854 11379875-PatDCR-025 PubMed: Knight 2001 2-generation family, affected son and unaffected carrier mother M no United Kingdom (Great Britain) - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 2 Johan den Dunnen
00105855 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita and Hoyeraal Hreidarsson syndrome 1 1 Johan den Dunnen
00105856 10364516-FamDCR055 PubMed: Knight 1999 - - - Spain - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105857 15842668-Pat PubMed: Kanegane 2005 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105858 15349768-Pat PubMed: Wong 2004 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105859 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105860 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105861 21931702-Pat PubMed: Vulliamy 2011 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita 1 1 Johan den Dunnen
00105862 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105863 11491307-Pat PubMed: Heiss 2001 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105864 21757622-Pat PubMed: Alder 2013 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita 1 1 Johan den Dunnen
00105865 09888995-Pat PubMed: Hassock 1999 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome 1 1 Johan den Dunnen
00105866 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome 1 1 Johan den Dunnen
00105867 21931702-Pat PubMed: Vulliamy 2011 - - - - - - 0 - - DKCX;HHS hoyeraal hreidarrson syndrome 1 1 Johan den Dunnen
00105868 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita and Hoyeraal Hreidarsson syndrome 1 1 Johan den Dunnen
00105869 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105870 21931702-Pat PubMed: Vulliamy 2011 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita 1 1 Johan den Dunnen
00105871 11379875-PatDCR-017 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome 1 1 Johan den Dunnen
00105872 11379875-PatDCR-071 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105873 18931339-Pat PubMed: Du 2009 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita, Hoyeraal Hreidarrson syndrome 1 1 Johan den Dunnen
00105874 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome, dyskeratosis congenita 1 1 Johan den Dunnen
00105875 18931339-Pat PubMed: Du 2009 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105876 12737310-Pat PubMed: Marrone 2003 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105877 12737310-Pat PubMed: Marrone 2003 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105878 15842668-Pat PubMed: Kanegane 2005 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105879 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita 1 1 Johan den Dunnen
00105880 21931702-Pat PubMed: Vulliamy 2011 - - - - - - 0 - - DKCX;HHS Hoyeraal Hreidarrson syndrome 1 1 Johan den Dunnen
00105881 12737310-Pat PubMed: Marrone 2003 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105882 11379875-PatDCR-075 PubMed: Knight 2001 2-generated family, 2 affected brothers and unaffected carrier mother/sister M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 4 Johan den Dunnen
00105883 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita and Hoyeraal Hreidarsson syndrome 1 1 Johan den Dunnen
00105884 12186364-Pat PubMed: Hiramatsu 2002 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105885 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105886 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 1 Johan den Dunnen
00105887 21757622-Pat PubMed: Alder 2013 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita 1 1 Johan den Dunnen
00105888 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita 1 1 Johan den Dunnen
00105889 16332973-Pat PubMed: Vulliamy 2006 - - - - - - 0 - - DKCX;HHS dyskeratosis congenita 1 1 Johan den Dunnen
00105890 10438713-FamPatHO PubMed: Vulliamy 1999 3-generation family, affected patient and uncle, unaffected heterozygous carrier mother/sister M no Germany - - 0 - - DKCX;HHS X-linked recessive dyskeratosis congenita 1 4 Johan den Dunnen
00105891 11379875-PatDCR-035 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00105892 11379875-PatDCR-062 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00105893 11379875-PatDCR-065 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00105894 11379875-PatDCR-066 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00105895 11379875-PatDCR-091 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148456 10364516-FamDCR005 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148457 10364516-FamDCR006 PubMed: Knight 1999 - - - Italy - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148458 10364516-FamDCR020 PubMed: Knight 1999 - - - France - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148459 10364516-FamDCR029 PubMed: Knight 1999 - - - United States - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148460 10364516-FamDCR030 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148461 10364516-FamDCR044 PubMed: Knight 1999 - - - United States - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148462 10364516-FamDCR046 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148463 10364516-FamDCR051 PubMed: Knight 1999 - - - United States - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148464 10364516-FamDCR055 PubMed: Knight 1999 - - - Spain - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
00148465 10364516-FamDCR056 PubMed: Knight 1999 - - - United States - - 0 - - DKCX;HHS - 1 1 Johan den Dunnen
Legend