All individuals with variants in gene CRYBB1

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

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Panel size     

Owner     
00013563 - - - F - Germany - - - no (pedigree) - FAP1 additional phenotype data available; colorectal phenotype classical, multiple polyps (expanded) entire colon; colectomy 30y 1 1 Stefan Aretz
00013704 - - - M - Germany - - - yes (pedigree) - FAP1 additional phenotype data available; colorectal phenotype classical, ? nr polyps distal accentuated; no colon cancer ; colectomy 38y IPAA; esophago-gastro-duodenoscopy age 38y; duodenal phenotypenormal 1 1 Stefan Aretz
00033899 - PubMed: Cohen 2007 6-generation family, 10 affecteds - yes Israel Bedouin - - - - CTRCT congenital cataract 2 10 Johan den Dunnen
00033900 - PubMed: Mackay 2002 4-generation family, 8 affecteds - - United States - - - - - CTRCT congenital cataract, fine, dustlike opacities that mainly affect central zone or fetal nucleus, lens but also affected cortex, anterior and posterior Y-suture regions 1 8 Johan den Dunnen
00033901 - PubMed: Willoughby 2005 3-generation family, 11 affecteds - - United Kingdom (Great Britain) - - - - - CTRCT congenital cataract, dense and nuclear but included cortical fibers (riders) and anterior and posterior polar opacities microcornea 1 11 Johan den Dunnen
00033950 - PubMed: Cohen 2007 3-generation family, 6 affecteds - yes Israel Bedouin - - - - CTRCT congenital cataract 2 12 Johan den Dunnen
00033951 - PubMed: Wang 2007 4-generation family, 7 affecteds - - China - - - - - CTRCT congenital cataract 1 7 Johan den Dunnen
00033952 - PubMed: Yang 2008 3-generation family, 10 affecteds - - China - - - - - CTRCT congenital cataract 1 10 Johan den Dunnen
00033953 - PubMed: Meyer 2009 2-generation family, 4 affected brothers - yes United Kingdom (Great Britain) Somali - - - - CTRCT congenital cataract 2 8 Johan den Dunnen
00295592 - - - F - - - - - - - ? Congenital cataract (HP:0000519) 1 1 Andreas Laner
00385536 17030224 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
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