All individuals with variants in gene CRYGC

89 entries on 1 page. Showing entries 1 - 89.
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00013661 - - - M - Germany - - - yes (pedigree) - FAP1 additional phenotype data available; colorectal phenotype attenuated, 108 polyps proximal accentuated; colectomy 42y 1 1 Stefan Aretz
00013662 - - - M - Germany - - - yes (pedigree) - FAP1 no additional phenotype data available 1 1 Stefan Aretz
00033858 - PubMed: Heon 1998 4-generation family, 18 affecteds - - Switzerland;Macedonia - - - - - CTRCT2;CCL cataract, Coppock-like; aculeiform cataract 1 18 Johan den Dunnen
00033859 - - 7-generation family, 30 affecteds - - United States - - - - - CTRCT with variable zonular pulverulent; severity varied fromsubtle unilateral zonular pulverulent cataract not impairing visual function to dense bilateral nuclear cataracts resulting in blindness 1 30 Johan den Dunnen
00033860 - - 4-generation family, mother and 2 children F - India - - - - - CTRCT congenital lamellar cataract 1 3 Johan den Dunnen
00033861 - - - - - India - - - - - CTRCT congenital 1 3 Johan den Dunnen
00033922 - - family, 3 affecteds - - Mexico - - - - - CTRCT congenital 1 3 Johan den Dunnen
00033969 - PubMed: Heon 1998 5-generation family, 4 affecteds - - Switzerland - - - - - CTRCT2;CCL cataract, Coppock-like; aculeiform cataract 1 4 Johan den Dunnen
00033970 - PubMed: Heon 1998 4-generation family, 3 affecteds - - Switzerland - - - - - CTRCT2;CCL cataract, Coppock-like; aculeiform cataract 1 3 Johan den Dunnen
00033971 - - - - - India - - - - - CTRCT congenital 1 1 Johan den Dunnen
00033972 - - 4-generation family, 9 affecteds - - Mexico - - - - - CTRCT congenital 1 9 Johan den Dunnen
00033973 - - 3-generation family, 7 affecteds - - China - - - - - CTRCT congenital; nuclear 1 7 Johan den Dunnen
00033974 - - 4-generation family, 7 affecteds - - China - - - - - CTRCT congenital; nuclear cataracts, microcornea 1 7 Johan den Dunnen
00033989 - - - - - Brazil - - - - - CTRCT - 1 5 Johan den Dunnen
00033994 - - affected father, son and daugther - - India - - - - - CTRCT congenital; lamellar 1 3 Johan den Dunnen
00034019 FamPatIII1 PubMed: Li 2012 3-generation family, 3 affected (grandfather, mother, daughter) F - China China - - - - CTRCT see paper; ..., congenital, nuclear cataract 1 3 Lu Cailing
00034022 Fam4PatI2;Fam8PatI2 PubMed: Prokudin 2014, PubMed: Ma 2016 2-generation family, 3 affected (mother/twin sons) F - Australia - - - - - CTRCT see paper; ..., bilateral nuclear cataract, microphthalmia; bilateral cataracts in affected children 1 3 Ivan Prokudin
00065031 - PubMed: Gillespie 2014, Journal: Gillespie 2014 3-generation family, 1 affected, no family hostory F yes - - - - - - CCTRCT nuclear cataract; microcornea; likely dominant inheritance 1 1 Johan den Dunnen
00065040 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected sister, mother, maternal grandfather M no - - - - - - CCTRCT nuclear, lamellar cataract 1 4 Johan den Dunnen
00073116 23441109-FamBPatMC13 PubMed: Kondo 2013 2-generation family, 3 affecteds (F, 2M) F - Korea Korean - - - - CCTRCT nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) 1 3 Jamie Zeegers
00073118 23441109-FamBPatMC14 PubMed: Kondo 2013 PatMC13 M - Korea Korean - - - - CCTRCT nystagmus (HP:0000639), amblyopia (HP:0000646), no systemic abnormalities (-HP:?), no intellectual disability (-HP:0001249), no developmental malformation (-HP:?), no intrauterine infection (-HP:?), no metabolic disease (-HP:?) 1 1 Jamie Zeegers
00073184 22876111-FamPatII7 PubMed: Guo 2012 4-generation family, 6-affecteds (4F,2M), PatII7 M - China Chinese >08y - - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 6 Jamie Zeegers
00073186 22876111FamPatI2 PubMed: Guo 2012 PatI2 M - China Chinese >68y - - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073189 22876111FamPatIII6 PubMed: Guo 2012 PatIII6 F - China Chinese - - - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073190 22876111-FamPatIV1 PubMed: Guo 2012 PatIV1 F - China Chinese >01y - - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073191 22876111-FamPatII2 PubMed: Guo 2012 PatII2 F - China Chinese >13y - - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00073192 22876111-FamPatIII3 PubMed: Guo 2012 PatIII3 F - China Chinese >06y - - - CCTRCT bilateral nuclear cataracts (HP:0000519), microcornea (HP:0000482), nystagmus (HP:0000639), amblyopia (HP:0000646) 1 1 Jamie Zeegers
00102738 - - - M no China Chinese - - - - CTRCT - 1 1 Zongfu Cao
00292550 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 62 Mohammed Faruq
00301380 - - - F - Germany - - - - - ? Congenital cataract (HP:0000519) 1 1 Andreas Laner
00336003 - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - CTRCT - 1 1 LOVD
00363777 G217 PubMed: Huang 2015 family F - China - - - - - glaucoma see paper; ... 1 1 LOVD
00434026 Fam97006Pat7 PubMed: Jiao 2022 4-generation family, 5 affected (F, 4M) M - Ukraine - - - - - CTRCT congenital hereditary nuclear cataract; microphthalmos, concomitant strabismus, nystagmus; visual acuity 0.2/0.4 1 1 Johan den Dunnen
00434078 Pat37 PubMed: Li 2016 - - - China - - - - - CTRCT unilateral total cataract 1 1 Johan den Dunnen
00434082 Pat57 PubMed: Li 2016 - - - China - - - - - CTRCT bilateral nuclear cataract 1 1 Johan den Dunnen
00434162 Fam07 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - CTRCT nuclear cataract; microphthalmia; no microcornea; iris malformations 1 1 Johan den Dunnen
00434163 Fam08 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - CTRCT nuclear cataract; no microphthalmia; no microcornea; iris malformations 1 1 Johan den Dunnen
00434201 Pat2 PubMed: Karahan 2021 - - - Turkey - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00434301 CAT-33 PubMed: Zhuang 2019 3-generation family, 5 affected (2F, 3M) F;M - China - - - - - CTRCT - 1 5 Johan den Dunnen
00444097 patient PubMed: Delas 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Switzerland - - - - - CTRCT see paper; ..., 2m15d-bilateral symmetrical dense almost complete nuclear cataract not allowing fundus visibility, no ocular anomalies, no microcornea, no microphthalmia 1 1 Johan den Dunnen
00444102 FamDPatII2 PubMed: Berry 2020 3-generation family, 3 (2F, M) affected F - United Kingdom (Great Britain) - - - - - CTRCT see paper; ..., nuclear cataract 1 3 Johan den Dunnen
00444107 FamI PubMed: Berry 2020 patient - - United Kingdom (Great Britain) - - - - - CTRCT see paper; ..., congenital cataract 1 1 Johan den Dunnen
00444111 Fam4PatII2 PubMed: Astiazaran 2018 2-generation family, 4 affected (F, 3M) F - Mexico - - - - - CTRCT bilateral nuclear cataract; strabismus 1 3 Johan den Dunnen
00444112 Fam4PatII3 PubMed: Astiazaran 2018 brother M - Mexico - - - - - CTRCT bilateral nuclear cataract; strabismus 1 1 Johan den Dunnen
00444124 Fam10PatI2 PubMed: Astiazaran 2018 2-generation family, 6 affected (4F, 2M) F - Mexico - - - - - CTRCT bilateral lamellar cataract; strabismus 1 6 Johan den Dunnen
00444125 Fam10PatII1 PubMed: Astiazaran 2018 daughter F - Mexico - - - - - CTRCT bilateral lamellar cataract; strabismus 1 1 Johan den Dunnen
00444126 Fam10PatII3 PubMed: Astiazaran 2018 daughter F - Mexico - - - - - CTRCT bilateral lamellar cataract 1 1 Johan den Dunnen
00444127 Fam10PatII4 PubMed: Astiazaran 2018 daughter F - Mexico - - - - - CTRCT bilateral lamellar cataract 1 1 Johan den Dunnen
00444128 Fam10PatII6 PubMed: Astiazaran 2018 son M - Mexico - - - - - CTRCT bilateral lamellar cataract 1 1 Johan den Dunnen
00444131 family PubMed: Zhang 2019 - - - China - - - - - CTRCT see paper; ... 1 1 Johan den Dunnen
00444132 Fam10074 PubMed: Zhong 2017 3-generation family, 4 affected (2F, 2M) - - China - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00444133 Fam10114 PubMed: Zhong 2017 2-generation family, 2 affected (2M) M - China - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00444134 Fam10047 PubMed: Zhong 2017 3-generation family, 3 affected (F, 2M) - - China - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00444135 Fam10103 PubMed: Zhong 2017 3-generation family, 4 affected (2F, 2M) - - China - - - - - CTRCT see paper; ... 1 4 Johan den Dunnen
00444136 Fam10185 PubMed: Zhong 2017 3-generation family, 3 affected (F, 2M) - - China - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00444137 Fam10138 PubMed: Zhong 2017 3-generation family, 3 affected (F, 2M) - - China - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00444138 Fam10082 PubMed: Zhong 2017 2-generation family, 3 affected (F, 2M) - - China - - - - - CTRCT see paper; ... 1 3 Johan den Dunnen
00444139 Fam10104 PubMed: Zhong 2017 2-generation family, affected mother/son - - China - - - - - CTRCT see paper; ... 1 2 Johan den Dunnen
00444142 FamC PubMed: Sun 2017 2-generation family, affected father/son M - China - - - - - CTRCT see paper; ..., microcornea, aphakia, no coloboma, high intraocular pressure, corneal degeneration, retinal detachment 1 2 Johan den Dunnen
00444143 FamD PubMed: Sun 2017 2-generation family, affectedfather/daughter/son F;M - China - - - - - CTRCT see paper; ..., microcornea, psuedophakia, no coloboma, retinal detachment 1 3 Johan den Dunnen
00444145 Pat2 PubMed: Sun 2017 - - - China - - - - - CTRCT see paper; ..., microcornea, cataract, optic disk coloboma 1 1 Johan den Dunnen
00444255 Pat14 PubMed: Moon 2021 - - - Korea - - - - - retinal disease - 1 1 Johan den Dunnen
00444330 Fam4PatIII1 PubMed: Li 2018 3-generation family, affected mother/son M - China - - - - - CTRCT nuclear cataract 1 2 Johan den Dunnen
00444861 Fam1 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - CTRCT binocular, all white 1 2 Johan den Dunnen
00444867 Fam7 PubMed: Fan 2020 2-generation family, affected mother/elder brother - - China - - - - - CTRCT binocular, all white 1 3 Johan den Dunnen
00444905 Fam22PatII3 PubMed: Ma 2016 3-generation family, 5 affeted (3F, 2M) F - Australia - - - - - CTRCT see paper; ..., bilateral lamellar cataract; two children affected with lamellar cataracts; father/sister also affected 1 5 Johan den Dunnen
00444930 FamDKEC1PatV29 PubMed: Kandaswamy 2020 6-generation family, affected 28 (15F, 13M) M no India - - - - - CTRCT see paper; ..., nuclear cataract, full ocular movements, clear conjunctiva, normal anterior chamber 1 28 Johan den Dunnen
00444955 11DG0994 PubMed: Patel 2017 family - - - - - - - - CTRCT pediatric cataract with microcornea; not syndromic 1 7 Johan den Dunnen
00444995 Pat9 PubMed: Reis 2013 family, 4 affected - - United States white - - - - CTRCT unilateral or bilateral congenital cataract 1 1 Johan den Dunnen
00445004 Pat18 PubMed: Reis 2013 family, 2 affected - - United States white - - - - CTRCT congenital cataract; microphthalmia/ microcornea, glaucoma, corneal opacity 1 1 Johan den Dunnen
00445027 Fam2PatIII3 PubMed: Taylan Sekeroglu 2020 3-generation family, 14 affected (8F, 6M) F - Turkey - - - - - CTRCT bilateral nuclear cataract, microphthalmos, no other ocular/systemic abnormalities 1 14 Johan den Dunnen
00445058 CCMM0102 PubMed: Kessel 2021 patient - - Denmark - - - - - CTRCT cataract 1 1 Johan den Dunnen
00445083 Fam5PatII1 PubMed: Reichsteiner 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Switzerland - - - - - CTRCT total cataract; microcornea; microphthalmos; non-syndromic; no aphakic glaucoma 1 1 Johan den Dunnen
00445128 family PubMed: Zhou 2021 3-generation family, affected mother/son/daughter F;M - China - - - - - CTRCT see paper; ..., congenital cataract, nuclear cataract, nystagmus 1 3 Johan den Dunnen
00445129 patient PubMed: Peng 2022 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - CTRCT see paper; ..., congenital cataract, microphthalmia, nystagmus 1 1 Johan den Dunnen
00446437 Fam20Pat55 PubMed: Liu 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00446473 Fam72Pat198 PubMed: Liu 2023 2-generation family, affected mother/2 sons M - China - - - - - CTRCT bilateral congenital cataract 1 3 Johan den Dunnen
00446474 Fam72Pat199 PubMed: Liu 2023 mother F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00446475 Fam72Pat200 PubMed: Liu 2023 son M - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00446546 Fam161Pat429 PubMed: Liu 2023 2-generation family, affected mother/son M - China - - - - - CTRCT bilateral congenital cataract 1 2 Johan den Dunnen
00446547 Fam161Pat430 PubMed: Liu 2023 mother F - China - - - - - CTRCT bilateral congenital cataract 1 1 Johan den Dunnen
00468282 family PubMed: Ma 2025 3-generation family, 6 affected (6F) F no China Han - - - - CTRCT see paper; ..., poor vision left eye since childhood; mother bilateral congenital cataracts 1 6 Johan den Dunnen
00468299 Fam14Pat18901 PubMed: Guo 2025 patient, no family history F - China - - - - - CTRCT see paper; ..., cataract; post operative glaucoma; microcornea; microphthalmia; nystagmus; 3y-surgery 1 1 Johan den Dunnen
00468303 Fam17Pat21278 PubMed: Guo 2025 patient, no family history M - China - - - - - CTRCT see paper; ..., cataract; microcornea; microphthalmia; nystagmus; 0.4y-surgery 1 1 Johan den Dunnen
00468363 Fam60Pat16018 PubMed: Guo 2025 family, several affected F - China - - - - - CTRCT see paper; ..., total cataract; microcornea; microphthalmia; nystagmus; 15.0y-surgery 1 3 Johan den Dunnen
00468364 Fam60Pat16016 PubMed: Guo 2025 relative M - China - - - - - CTRCT see paper; ..., cataract; microcornea; microphthalmia; nystagmus; 1.2y-surgery 1 1 Johan den Dunnen
00468385 Fam73Pat18694 PubMed: Guo 2025 family, several affected M - China - - - - - CTRCT see paper; ..., cataract; microcornea; nystagmus; 1.0y-surgery 1 2 Johan den Dunnen
00468386 Fam73Pat19533 PubMed: Guo 2025 relative F - China - - - - - CTRCT see paper; ..., total cataract; microcornea; microphthalmia; 0.5y-surgery 1 1 Johan den Dunnen
00468424 Fam90Pat11751 PubMed: Guo 2025 family, several affected M - China - - - - - CTRCT see paper; ..., nuclear cataract; microcornea; microphthalmia; nystagmus; 15.0y-surgery 1 2 Johan den Dunnen
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