Disease #05636 (EVR7 (vitreoretinopathy exudative, type 7 (EVR-7)), OMIM:617572)

Official abbreviation EVR7
Name vitreoretinopathy exudative, type 7 (EVR-7)
OMIM ID 617572
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene CTNNB1
Associated tissues -
Disease features -
Remarks autosomal dominant


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00248854 F258 PubMed: Panagiotou 2017 3 affected individuals spanning 2 generations F - United States Hawaiian of Japanese origin - 0 - - EVR7 - - CTNNB1 1 3 Carmel Toomes
00248855 F410 PubMed: Panagiotou 2017 Autosomal dominant 3 generation family with reduced penetrance M - Japan - - 0 - - EVR7 Presented at 11 years of age with very low vision. Fundus examination showed retinal avascularity, exudation, retinal holes, and bilateral retinal detachment, for which he underwent buckle surgery in both eyes - CTNNB1 1 1 Carmel Toomes
00248856 - PubMed: Dixon 2016 - M - United States - - 0 - - EVR7 familial exudative vitreoretinopathy (HP:0030490), intellectual disability (HP:0001249), autism spectrum disorder (HP:0000729) - CTNNB1 1 1 Carmel Toomes
00249413 QT2648 PubMed: Sun 2019 - F - China - - 0 - - EVR7 - - CTNNB1 1 1 Carmel Toomes
00249414 QT1615 PubMed: Sun 2019 - F no China - - 0 - - EVR7 - - CTNNB1 1 1 Dimitra Ilektra Lerou
00249415 QT409 PubMed: Sun 2019 - M - China - - 0 - - EVR7 Syndromic Familial Exudative Vitreorepinopathy - CTNNB1 1 1 Jasmine Chen
00249416 QT1504 PubMed: Sun 2019 - M no China - - 0 - - EVR7 - - CTNNB1 1 1 Dimitra Ilektra Lerou
00262095 Patient 1 PubMed: Karolak 2019 - M no United States white 00y04m 0 - - EVR7 HP:0000252 Microcephaly HP:0001249 Intellectual Disability HP:0001257 Spasticity HP:0002878 Respiratory Failure - CTNNB1, TBX4 2 1 Dimitra Ilektra Lerou
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