Disease #05414

Official abbreviation USH-2
Name Usher syndrome, type II (USH-2)
OMIM ID -
Individuals reported having this disease 1781
Phenotype entries for this disease 1781
Associated with 2 genes GPR98, USH2A
Associated tissues -
Disease features -
Remarks -


Individuals

1781 entries on 18 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00163044 - PubMed: Ebermann et al., 2010 Proband - Carries c.1750-2A>G in PDZD7 - heterozygous, 0/200 controls F - - - - 0 - - USH-2 - PDZD7 PDZD7 1 1 Anne-Françoise Roux
00163045 - PubMed: Ebermann et al., 2009 Proband F - Canada - - 0 - - USH-2 - PDZD7 PDZD7 1 1 Anne-Françoise Roux
00163046 - PubMed: Bonnet et al., 2016 Proband M - Italy - - 0 - - USH-2 - PDZD7 PDZD7 1 1 Crystel Bonnet
00163047 - PubMed: Rong et al., 2014 Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - 0 - - USH-2 - PDZD7 PDZD7 1 1 Anne-Françoise Roux
00163048 - PubMed: Ebermann et al., 2010 Proband - carries c.2194_2203del - p.Cys732Leufs* in PDZD7 - heterozygous, 0/405 controls M - Germany - - 0 - - USH-2 - PDZD7 PDZD7 1 1 Anne-Françoise Roux
00163049 - PubMed: Ebermann et al., 2010 Proband M - France - - 0 - - USH-2 - PDZD7 PDZD7 1 1 Anne-Françoise Roux
00163050 - PubMed: Besnard, Garcia-Garcia et al., 2014 Proband F - France - - 0 - - USH-2 - PDZD7 PDZD7 1 1 Anne-Françoise Roux
00163130 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163146 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163147 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 4 1 Maria Bitner-Glindzicz
00163162 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163163 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163164 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163171 - PubMed: Bonnet et al., 2016 proband F - France - - 0 - - USH-2 - USH1G USH1G 1 1 Crystel Bonnet
00163176 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163178 - PubMed: Glöcke et al., 2013 proband - - - - - 0 - - USH-2 - USH1G USH1G 1 1 Anne-Françoise Roux
00163186 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163187 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163188 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - USH1G USH1G 1 1 Maria Bitner-Glindzicz
00163274 - - proband M - France - - 0 - - USH-2 - DFNB31 DFNB31 12 1 Anne-Françoise Roux
00163275 - PubMed: Besnard et al., 2011 proband F - Portugal - - 0 - - USH-2 - DFNB31 DFNB31 6 1 Anne-Françoise Roux
00163276 - PubMed: Bonnet et al., 2011 proband M - - - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163277 - PubMed: Jaijo et al., 2010 proband - - Spain - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Jose Maria Millan
00163282 - PubMed: Ebermann et al., 2007 proband M - Germany - - 0 - - USH-2 - DFNB31 DFNB31 2 1 David Baux
00163283 - PubMed: Ebermann et al., 2007 relative F - Germany - - 0 - - USH-2 - DFNB31 DFNB31 2 1 David Baux
00163284 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 2 1 Maria Bitner-Glindzicz
00163285 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163288 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163292 - PubMed: Bonnet et al., 2011 proband - - - - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163293 - PubMed: Audo et al., 2011 relative M - Portugal - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163294 - PubMed: Audo et al., 2011 relative F - Portugal - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163295 - PubMed: Audo et al., 2011 proband F - Portugal - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163296 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163299 - PubMed: Jiang et al., 2015 proband M - China - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163303 - PubMed: Bonnet et al., 2011 proband - - - - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163306 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163309 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163310 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163313 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband M - France - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163318 - PubMed: Rong et al., 2014 proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication. M - China - - 0 - - USH-2 - DFNB31 DFNB31 4 1 Anne-Françoise Roux
00163327 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163330 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 2 1 Maria Bitner-Glindzicz
00163335 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163352 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163354 - PubMed: Aparisi et al., 2014 proband - - Spain - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Anne-Françoise Roux
00163374 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163375 - PubMed: Le Quesne Stabej et al., 2012 proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - DFNB31 DFNB31 1 1 Maria Bitner-Glindzicz
00163513 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband F - France - - 0 - - USH-2 - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163609 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband F - Algeria - - 0 - - USH-2 - MYO15A MYO15A 1 1 Anne-Françoise Roux
00163636 - PubMed: Besnard, Garcia-Garcia et al., 2014 proband M - France - - 0 - - USH-2 - MYO15A MYO15A 2 1 Anne-Françoise Roux
00163637 - PubMed: Ebermann et al., 2010 proband M - France - - 0 - - USH-2 - MYO15A MYO15A 1 1 Anne-Françoise Roux
00165702 - PubMed: Aparisi 2014 Proband M - Spain - - 0 - - USH-2 - - CDH23, USH2A 25 1 Jose Maria Millan
00165780 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - USH-2 - - CDH23 2 1 Jose Maria Millan
00165782 - PubMed: Jaijo 2010 Proband F - Spain - - 0 - - USH-2 - - CDH23 2 1 Jose Maria Millan
00166402 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - - GPR98 1 1 David Baux
00166403 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - - GPR98 1 1 David Baux
00166404 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - - GPR98 1 1 David Baux
00166405 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - - GPR98 1 1 David Baux
00166406 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - - GPR98 1 1 David Baux
00166407 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - - GPR98 1 1 David Baux
00166408 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - - GPR98 1 1 David Baux
00166409 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - - GPR98 1 1 David Baux
00166410 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166411 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166412 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166413 - PubMed: Weston 2004 Relative F - - - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166414 - PubMed: Weston 2004 Proband F - - - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166415 - PubMed: Hilgert 2009 Proband M - Iran - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166416 - PubMed: Hilgert 2009 Relative M - Iran - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166417 - PubMed: Hilgert 2009 Relative F - Iran - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166418 - PubMed: Hilgert 2009 Relative F - Iran - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166419 - PubMed: Hilgert 2009 Relative F - Iran - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166420 - PubMed: Ebermann 2009 Proband M - Canada - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166421 - PubMed: Ebermann 2009 Proband F - Germany - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166422 - PubMed: Ebermann 2009 Relative M - Germany - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166423 - PubMed: Hmani-Aifa 2009 Proband - severe RP - the patient also carries the c.2419T>A variant (homozygous) in the PDE6B gene. F - Tunisia - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166424 - PubMed: Hmani-Aifa 2009 Relative - No mutation in PDE6B. Typical USH2 RP. M - Tunisia - - 0 - - USH-2 - - GPR98 2 1 David Baux
00166468 - PubMed: Ebermann 2010 Proband - carries c.2194_2203del - p.Cys732Leufs* in PDZD7 - heterozygous, 0/405 controls M - Germany - - 0 - - USH-2 - - GPR98 1 1 Anne-Françoise Roux
00166495 - PubMed: Malm 2010 Proband - - Sweden - - 0 - - USH-2 - - GPR98 1 1 Anne-Françoise Roux
00166496 - PubMed: Malm 2010 Relative - - Sweden - - 0 - - USH-2 - - GPR98 1 1 Anne-Françoise Roux
00166497 - PubMed: Malm 2010 Relative - - Sweden - - 0 - - USH-2 - - GPR98 1 1 Anne-Françoise Roux
00166527 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - - CDH23, USH2A 2 1 Anne-Françoise Roux
00166528 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - - GPR98 2 1 Anne-Françoise Roux
00166529 - PubMed: Bonnet 2011 Proband M - - - - 0 - - USH-2 - - GPR98 2 1 Anne-Françoise Roux
00166530 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - - GPR98 2 1 Anne-Françoise Roux
00166531 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - - GPR98 1 1 Anne-Françoise Roux
00166532 - PubMed: Bonnet 2011 Proband - - - - - 0 - - USH-2 - - CDH23 1 1 Anne-Françoise Roux
00166564 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - USH-2 - - CDH23, USH2A 2 1 Anne-Françoise Roux
00166565 - PubMed: Vozzi 2011 Proband - - Italy - - 0 - - USH-2 - - CDH23, USH2A 2 1 Anne-Françoise Roux
00166590 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - GPR98, PCDH15, USH2A 6 1 Maria Bitner-Glindzicz
00166591 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - CDH23, GPR98, MYO7A, USH2A 19 1 Maria Bitner-Glindzicz
00166592 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - GPR98, USH2A 6 1 Maria Bitner-Glindzicz
00166593 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - CDH23, GPR98, PCDH15, USH2A 12 1 Maria Bitner-Glindzicz
00166594 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - PCDH15, USH2A 6 1 Maria Bitner-Glindzicz
00166595 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - MYO7A, PCDH15, USH1C, USH2A 5 1 Maria Bitner-Glindzicz
00166596 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - GPR98, MYO7A, PCDH15, USH2A 6 1 Maria Bitner-Glindzicz
00166598 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - CDH23, GPR98, MYO7A, USH2A 10 1 Maria Bitner-Glindzicz
00166599 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - CLRN1, MYO7A, USH2A 6 1 Maria Bitner-Glindzicz
00166601 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - GPR98, MYO7A, USH2A 5 1 Maria Bitner-Glindzicz
00166604 - PubMed: Le Quesne Stabej 2012 Proband - - United Kingdom (Great Britain) - - 0 - - USH-2 - - CDH23, GPR98, USH2A 28 1 Maria Bitner-Glindzicz
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »