All individuals with variants in gene CRYGD

59 entries on 1 page. Showing entries 1 - 59.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00013672 - - - M - Germany - - - no (pedigree) - FAP-1 no additional phenotype data available; colorectal phenotype classical, ? nr polyps 1 1 Stefan Aretz
00033862 - - 4-generation family, 11 affecteds - - United States - - 0 - - CTRCT punctate cataract, juvenile progressive 1 11 Johan den Dunnen
00033863 - - 6-generation family, 25 affecteds - - China - - 0 - - CTRCT coralliform/nuclear 1 25 Johan den Dunnen
00033864 - - affected father and daugther - - India - - 0 - - CTRCT lamellar 1 2 Johan den Dunnen
00033865 - - 5-generation family, 19 affecteds - - Morocco - - 0 - - CTRCT cerulean 1 19 Johan den Dunnen
00033866 - - 4-generation family, 8 affecteds - - United States Caucasian - 0 - - CTRCT coral-shaped, coralliform 1 8 Johan den Dunnen
00033867 - - 7-generation family, 77 affecteds - - Mongolia Asian, central; white - 0 - - CTRCT congenital; nonnuclear polymorphic congenital cataract 1 77 Johan den Dunnen
00033868 - - 4-generation family, 7 affecteds - - China - - 0 - - CTRCT nuclear golden crystal 1 7 Johan den Dunnen
00033869 - - 4-generation family, 5 affecteds - - Switzerland - - 0 - - CTRCT aculeiform 1 5 Johan den Dunnen
00033870 - - affected brother and sister, parents not a carrier - - Mexico - - 0 - - CTRCT nuclear 1 2 Johan den Dunnen
00033871 - - affected mother and daugther - - Denmark - - 0 - - CTRCT congenital; total or nearly total; microcornea 1 2 Johan den Dunnen
00033872 - - 3-generation family, affected father and daugther - - India - - 0 - - CTRCT central nuclear 1 2 Johan den Dunnen
00033884 - - 4-generation family, 3 affected Fs, 1 male F - India - - 0 - - CTRCT congenital; nonsyndromic presenile 2 4 Johan den Dunnen
00033975 - - 3-generation family, 2 affecteds - - Switzerland - - 0 - - CTRCT aculeiform 1 2 Johan den Dunnen
00033976 - - 2-generation family, 2 affecteds - - Switzerland - - 0 - - CTRCT aculeiform 1 2 Johan den Dunnen
00033977 - - - - - Czech Republic - - 0 - - CTRCT protein crystallisation 1 1 Johan den Dunnen
00033978 - - - - - Mongolia Asian, central; white - 0 - - Healthy/Control - 2 1 Johan den Dunnen
00033979 - - 3-generation family, 7 affecteds - - China - - 0 - - CTRCT congenital 1 7 Johan den Dunnen
00033980 - - 4-generation family, 11 affecteds - - China - - 0 - - CTRCT coralliform cataracts 1 11 Johan den Dunnen
00033981 - - 3-generation family, 15 affecteds - - India - - 0 - - CTRCT congenital 1 5 Johan den Dunnen
00033982 - - affected father, dauther and son - - Brazil - - 0 - - CTRCT nuclear 3 3 Johan den Dunnen
00033983 - - 3-generation family, 8 affecteds - - China - - 0 - - CTRCT congenital; coralliform 1 8 Johan den Dunnen
00033984 - - 4-generation family, 7 affecteds - - China - - 0 - - CTRCT congenital; coralliform 1 7 Johan den Dunnen
00033986 - - 5-generation family, 21 affecteds - - United States - - 0 - - CTRCT - 1 21 Johan den Dunnen
00033989 - - - - - Brazil - - 0 - - CTRCT - 2 5 Johan den Dunnen
00033990 - - - - - Brazil - - 0 - - CTRCT - 1 9 Johan den Dunnen
00033991 - - - - - Brazil - - 0 - - CTRCT - 1 7 Johan den Dunnen
00034003 - PubMed: Roshan 2010 Anterior polar coronary ? - India India - 0 - - CTRCT at the age of 11 years. Right eye showed the phenotype as anterior polar with coronary cataract and left eye with only anterior polar cataract with a progressive loss of vision. Other ocular examination showed normal ocular movements with clear cornea. 1 1 Lars Hansen
00034006 - - 3-generation family, 6 affecteds - - India - - 0 - - CTRCT zonular, nuclear opacity; microcornea 3 1 Johan den Dunnen
00034007 - - family, 3 affecteds - - India - - 0 - - CTRCT - 3 1 Johan den Dunnen
00034009 - - family, 1 affected - - India - - 0 - - CTRCT posterior polar/lenticonus, capsular dehiscence 3 1 Johan den Dunnen
00034010 - - family, 2 affecteds - - India - - 0 - - CTRCT posterior subcapsula 3 1 Johan den Dunnen
00034011 - - 3-generation family, 16 affecteds - - India - - 0 - - CTRCT lamellar (stationary, non-progressive) 1 1 Johan den Dunnen
00034012 - - family, 2 affecteds - - India - - 0 - - CTRCT lamellar 2 1 Johan den Dunnen
00034025 - - - F no China - - 0 - - CTRCT congenital cataract 1 1 Juhua Yang
00065048 - PubMed: Gillespie 2014, Journal: Gillespie 2014 no family history F yes - - - 0 - - CCTRCT R: nuclear, sutural, posterior plaque cataract; R: PFV, microphthalmia, horizontal jerk nystagmus, right divergent squint, strabismus; mild microcephaly, developmental delay, hypotonia, up-slanted and long palpebral fissures, small tapered fingers 1 1 Johan den Dunnen
00072342 26147294-FamPatIV1 PubMed: Zhuang 2015, Journal: Zhuang 2015 4 generation family, 4-affecteds (4F), PatIV1 F no China Chinese - 0 - - CCTRCT impaired visual acuity (HP:0030532), lens opacity (HP:0000518), opacity in the central nucleus region of both lenses (HP:0000518), Y-sutures were also involved with prominent opacity (HP:?), no systemic disease (-HP:?), no other ocular disease (-HP:?) 1 4 Jamie Zeegers
00072355 21866214-FamPatIV7 PubMed: de Figueiredo 2011 4-generation family, 8 affecteds (3F, 5M)/30 unaffecteds, PatIV7 only homozygous case M - Brazil Brazilian - 0 - surgery CCTRCT lamellar (HP:0007971), visual acuity (HP:0030532) 1 2 Jamie Zeegers
00072356 21866214FamPatIII22 PubMed: de Figueiredo 2011 PatIII22 M - Brazil Brazilian >25y 0 - - CCTRCT visual acuity (HP:0030532), pulverulent (HP:0010693) 1 1 Jamie Zeegers
00073637 24465161-FamPatIII1 PubMed: Zhai 2014, Journal: Zhai 2014 3-generation family, affected father/daughter, PatIII1 F - China Chinese >01y 0 - - CCTRCT bilateral congenital nuclear cataract (HP:0008024), posterior polar cataract (HP:0001115), lens opacification (HP:?), horizontal nystagmus (HP:0000666), amblyopia (HP:0000646) 1 2 Jamie Zeegers
00073638 24465161-FamPatII2 PubMed: Zhai 2014, Journal: Zhai 2014 PatII2 M - China Chinese >30y 0 - - CCTRCT bilateral congenital nuclear cataract (HP:0008024), posterior polar cataract (HP:0001115), lens opacification (HP:?), horizontal nystagmus (HP:0000666), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073640 22219628-Fam1PatV1 PubMed: VanderVeen 2011 5-generation family, 18 affecteds (12F, 6M), PatV1 F - United States European, north - 0 - - CCTRCT fix on light (HP:?), normal pupillary reactions (HP:?), abnormal red reflex (HP:?), left aphakic (HP:?) 1 18 Jamie Zeegers
00073641 22219628-Fam2PatIII1 PubMed: VanderVeen 2011 3-generation family, affected mother/son, PatIII1 M - United States Iranian - 0 - - CCTRCT bilateral involvement (HP:?), abnormal red reflex (HP:?), specks in the nucleus of the lens (HP:?), clear peripheral and intervening lens (HP:?) 1 2 Jamie Zeegers
00073642 21527994-FamPatI1 PubMed: Wang 2011 3-generation family with 5 affecteds (2F, 3M), PatI1 F - China Chinese - 0 - Surgery CCTRCT bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) 1 5 Jamie Zeegers
00073644 21527994-FamPatII1 PubMed: Wang 2011 PatII1 M - China Chinese - 0 - Surgery CCTRCT bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) 1 1 Jamie Zeegers
00073645 21527994-FamPatIII1 PubMed: Wang 2011 PatIII1 M - China Chinese - 0 - Surgery CCTRCT bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) 1 1 Jamie Zeegers
00073646 21527994-FamPatII3 PubMed: Wang 2011 PatII3 F - China Chinese - 0 - - CCTRCT bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) 1 1 Jamie Zeegers
00073647 21527994-FamPatII7 PubMed: Wang 2011 PatII7 M - China Chinese - 0 - - CCTRCT bilateral white central nuclear opacities (HP:?), no other ocular or systemic abnormalities (HP:?) 1 1 Jamie Zeegers
00073664 19633732-Fam1PatII5 PubMed: Khan 2009 2-generation family, 5-affecteds (5M), PatII5 M no Saudi Arabia - >04y 0 - - CCTRCT cerulean cataract (HP:0007976), photophobia (HP:0000613), no visual acuity test abnormality (-HP:0030532) 6 5 Jamie Zeegers
00073665 19633732-Fam1PatII4 PubMed: Khan 2009 PatII4 M no Saudi Arabia - >06y 0 - - CCTRCT cerebral palsy (HP:0100021), difficulty hearing (HP:?), development delay (HP:?), coralliform cateract (HP:0010921) 2 1 Jamie Zeegers
00073667 19633732-Fam1PatII1 PubMed: Khan 2009 PatII1 M no Saudi Arabia - - 0 - Surgery CCTRCT bilateral pseudophakia (HP:?) 2 1 Jamie Zeegers
00073668 19633732-Fam2PatII1 PubMed: Khan 2009 2-generation family, 1 affected F yes Saudi Arabia - >07y 0 - - CCTRCT cerulean cataract (HP:0007976), visual acuity test abnormality (HP:0030532) 1 1 Jamie Zeegers
00183350 ASHG2018-P1223 Zheng ASHG2018 P1223 3-generation family, 3 affecteds F;M no China - - 0 - - CTRCT bilateral, autosomal dominant congenital cataract, high myopia 1 3 Johan den Dunnen
00183351 28849415-FamPatI1/III3 PubMed: Dudakova 2017 3-generation family, 4 affected (2F, 2M), paternal grandmother and son III3, father (II4) not available F;M no Czech Republic - - 0 - - CTRCT PatI1 (65y) bilateral catarat 16y, best corrected visual acuity R 0.33/L ?, iris coloboma R, no microcornea;55y-left enucleated for secondary glaucoma PatIII3 (17y) bilateral nuclear cataract, best corrected visual acuity R 0.1/L 0.25, iris no coloboma, no microcornea, horizontal nystagmus (L+R) 1 4 Johan den Dunnen
00183352 28849415-FamPatIII2 PubMed: Dudakova 2017 - F - Czech Republic - - 0 - - Healthy/Control clear lenses, best corrected visual acuity 1.0 (L and R), no ocular pathology, no iris coloboma, no microcornea 1 1 Johan den Dunnen
00363778 G598 PubMed: Huang 2015 family F - China - - 0 - - glaucoma see paper; ... 1 1 LOVD
00382145 191 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - CTRCT-4 congenital cataract; MIM, 115700 1 1 LOVD
00382146 290 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - CTRCT-4 congenital cataract; MIM, 115700 1 1 LOVD
00385472 15010948 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
Legend   How to query