Disease #04240 (EVR;FEVR (vitreoretinopathy, exudative (EVR; familial FVER))))

Official abbreviation	EVR;FEVR
Name	vitreoretinopathy, exudative (EVR; familial FVER))
OMIM ID	-
Inheritance	-
Individuals reported having this disease	259
Phenotype entries for this disease	231
Associated with 6 genes	CTNNB1, FZD4, LRP5, NDP, TSPAN12, ZNF408
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-04-10 12:38:11 +02:00 (CEST)
Date last edited	2019-07-31 13:55:30 +02:00 (CEST)

Individuals

Legend

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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!	Date	!2020-03	all entries not matching March, 2020
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
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259 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00106555	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Frans Cremers
00106556	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106557	Fam5PatII1	PubMed: Kondo 2003	2 generation family, 1 affected, unaffected non carrier parents	F	-	Jamaica	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106558	-	Boonstra 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106559	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Frans Cremers
00106560	-	Muller 2008	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106561	-	Boonstra 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106562	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106563	12172548-Fam2	PubMed: Robitaille 2002, Journal: Robitaille 2002	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106564	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106565	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106566	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106567	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Frans Cremers
00106568	-	Kondo 2003	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106569	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106570	-	Robitaille 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106571	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106572	-	Omoto 2004	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106574	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Frans Cremers
00106576	-	Boonstra 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106577	-	MacDonald 2005	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106578	-	Qin 2005	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106579	-	Yoshida 2004	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106580	-	Qin 2005	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106582	-	Kondo 2003	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106583	-	Boonstra 2009	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106584	Fam4PatI1	PubMed: Kondo 2003	2-generation family, affected mother/son	F	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	2	2	Johan den Dunnen
00106585	-	Muller 2008	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106586	-	Toomes 2004b	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Johan den Dunnen
00106587	-	PubMed: Nikopoulos 2010	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	1	Frans Cremers
00106588	12172548-Fam	PubMed: Robitaille 2002, Journal: Robitaille 2002	3-generation family, 29 affecteds (16F, 13M)	F;M	no	Canada	British	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (FEVR)	FZD4	FZD4	1	29	Johan den Dunnen
00107595	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	6	Johan den Dunnen
00107596	-	-	-	-	-	United States	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	6	Johan den Dunnen
00107604	-	-	-	-	-	Japan	-	-	-	-	-	EVR;FEVR	exudative vitreoretinopathy (OMIM601813)	LRP5	LRP5	1	1	Johan den Dunnen
00107605	-	-	heterozygous parent	-	-	Japan	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy, autosomal recessive	LRP5	LRP5	2	1	Johan den Dunnen
00107644	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Johan den Dunnen
00107645	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Johan den Dunnen
00107646	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Johan den Dunnen
00107647	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Johan den Dunnen
00107662	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Frans Cremers
00107663	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Frans Cremers
00107664	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy, autosomal recessive	LRP5	LRP5	2	1	Frans Cremers
00107665	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Frans Cremers
00107696	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Frans Cremers
00107697	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Frans Cremers
00107698	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy, autosomal recessive	LRP5	LRP5	1	1	Frans Cremers
00107699	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy, autosomal recessive	LRP5	LRP5	1	1	Frans Cremers
00107700	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy, autosomal recessive	LRP5	LRP5	1	1	Frans Cremers
00107701	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Frans Cremers
00107702	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Frans Cremers
00107705	-	-	-	-	-	-	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy	LRP5	LRP5	1	1	Frans Cremers
00154935	-	-	-	F	-	Netherlands	Dutch	28y	-	-	-	EVR;FEVR	EVR + microcephaly	KIF11	KIF11	1	1	Dyah Karjosukarso
00155557	MOL0513	PubMed: Beryozkin 2015, PubMed: Sharon 2019	family	F	yes	Israel	Beduin	-	-	-	-	EVR;FEVR	-	TSPAN12	TSPAN12	1	4	Dror Sharon
00262062	Patient 1	PubMed: Zhang 2019	2-generation family, affected father/daughter	F	no	China	-	21y	-	yes	-	EVR;FEVR	-	-	JAG1	1	1	Dimitra Ilektra Lerou
00262083	Patient 2	PubMed: Zhang 2019	2-generation family, affected mother/son	M	no	China	-	-	-	yes	-	EVR;FEVR	HP:0000541 Retinal detachment HP:0000518 Cataract	-	JAG1	1	1	Dimitra Ilektra Lerou
00262085	Patient 3	PubMed: Zhang 2019	2-generation family, affected mother/son	M	no	China	-	?	-	-	-	EVR;FEVR	-	-	JAG1	1	1	Dimitra Ilektra Lerou
00262088	Patient 1 (daughter)	PubMed: Wang 2019	2-generation family, affected mother/daughter	F	?	China	-	27y	-	-	-	EVR;FEVR	HP:0001249 Intellectual Disability HP:0000565 Esotropia HP:0001270 Motor Delay HP:0000541 Retinal Detachment	-	CTNNB1	1	2	Dimitra Ilektra Lerou
00262094	Patient 2 (mother)	PubMed: Wang 2019	2-generation family, affected mother/daughter	F	?	China	-	49y	-	-	-	EVR;FEVR	HP:0001249 Intellectual Disability HP:0000565 Esotropia HP:0001270 Motor Delay	-	CTNNB1	1	1	Dimitra Ilektra Lerou
00263089	E9 III-2	PubMed: Wu 2016	family of 3-generations, 2 affected	M	no	Taiwan	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490); no sign of retinitis pigmentosa (HP:0000510); left eye: total traction retinal detachment (HP:0007917), corneal opacity (HP:0007957), retinal hole (HP:0011530)	FZD4, LRP5, NDP, TSPAN12, ZNF408	NDP, RCBTB1	2	2	Jasmine Chen
00263295	E9 III-4	PubMed: Wu 2016	3 generation family, 2 affected	M	no	Taiwan	-	-	-	-	right eye intraocular lens implantation	EVR;FEVR	familial exudative retinopathy (HP:0030490), right eye fibrovascular stalk (HP:0007968), left eye (HP:0001103)	FZD4, LRP5, NDP, TSPAN12, ZNF408	NDP, RCBTB1	2	1	Jasmine Chen
00263296	E5 II-1	PubMed: Wu 2016	2 generation family, 1 affected	M	no	Taiwan	-	-	-	-	cryopexy, pars plana vitrectomy, removal of subretinal fibrous cord	EVR;FEVR	subretinal lipid exudate (HP:0011532), right eye exudative retinal detachment (HP:0012231), right eye Coats disease (HP:0030490), left eye aphakia (HP:0007707)	-	RCBTB1	1	1	Jasmine Chen
00263300	F1 V:1	PubMed: Coppieters 2016	5 generation consanguineous family, 3 affected	F	yes	Belgium	Turkish	-	-	-	-	EVR;FEVR, retinal disease	severe retinitis pigmentosa (HP:0000510), goiter (HP:0000853), primary ovarian insufficiency (HP:0008209), mild intellectual disability (HP:0001256)	-	RCBTB1	1	3	Jasmine Chen
00263971	W05-215 III:5	PubMed: Collin 2013	5-generation family, 12 affected	M	no	Netherlands	-	-	-	-	diathermy	EVR6, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), left eye retinal detachment (HP:0000541),	-	PASK, ZNF408	2	12	Jasmine Chen
00263981	W05-215 V:2	PubMed: Collin 2013	PatV2	F	no	Netherlands	-	-	-	-	-	EVR6, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), left eye falciform retinal fold (HP:0001493)	PASK, ZNF408	PASK, ZNF408	2	1	Jasmine Chen
00264047	W05-220 IV:3	PubMed: Collin 2013	5 generation family, 2 affected; related to family W05-215 of same study by common ancestor	M	no	Netherlands	-	-	-	-	-	EVR6, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490)	PASK, ZNF408	ZNF408	1	2	Jasmine Chen
00264048	W05-220 V:2	PubMed: Collin 2013	PatV2	M	no	Netherlands	-	-	-	-	-	EVR6, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), horizontal nystagmus (HP:0000666)	PASK, ZNF408	ZNF408	1	1	Jasmine Chen
00264049	F117 II:2	PubMed: Collin 2013	2 generation family, 2 affected	M	no	Japan	-	-	-	-	laser photocoagulation	EVR6, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), retinal hole (HP:0011530)	ZNF408	ZNF408	1	2	Jasmine Chen
00264050	F117 I:1	PubMed: Collin 2013	PatI1	M	no	Japan	-	-	-	-	-	EVR6, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), exudative retinal detachment (HP:0012231),	ZNF408	ZNF408	1	1	Jasmine Chen
00265201	MEP57 2298	PubMed: Khan 2011	4 generation family, consanguineous, 5 affected	M	yes	Pakistan	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), detached retina (HP:0000541), no light perception (HP:0032287), microphthalmia (HP:0000568)	-	ATOH7, FRMPD2, PBLD	3	5	Jasmine Chen
00265202	FamAPatient 1 (son)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	04y	-	yes	-	EVR;FEVR	Retinal detachment HP:0000541	-	FZD4	1	2	Dimitra Ilektra Lerou
00265204	FamAPat2 (father)	PubMed: Tian 2019	affected father	M	?	China	-	?	-	no	-	EVR;FEVR	-	-	FZD4	1	1	Dimitra Ilektra Lerou
00265205	FamBPat3 (son)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	03y	-	yes	-	EVR;FEVR	Falciform retinal fold HP:0001493	-	FZD4	1	2	Dimitra Ilektra Lerou
00265206	FamB Patient 4 Tian 2019 (father)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	?	-	-	-	EVR;FEVR	-	-	FZD4	1	1	Dimitra Ilektra Lerou
00265208	NE1 F475	PubMed: Khan 2011	4 generation family, 2 affected	M	yes	Turkey	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), microphthalmia (HP:0000568), detached retina (HP:0000541), small optic nerve (HP:0008058)	ATOH7	ATOH7	1	2	Jasmine Chen
00265211	FamC Patient 5 Tian 2019 (son)	PubMed: Tian 2019	2-generation family, affetced father/son	M	?	China	-	03y	-	-	-	EVR;FEVR	Norrie Disease with Choroidal Atrophy OMIM:310600	-	FZD4	1	2	Dimitra Ilektra Lerou
00265241	FamC Patient 6 Tian 2019 (father)	PubMed: Tian 2019	2-generation family,affected father/son	M	?	China	-	?	-	-	-	EVR;FEVR	-	-	FZD4	1	1	Dimitra Ilektra Lerou
00265242	FamD Patient 7 Tian 2019 (son)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	02y	-	yes	-	EVR;FEVR	Retinal folds HP:0008052	-	FZD4	1	2	Dimitra Ilektra Lerou
00265243	FamD Patient 8 Tian 2019 (father)	PubMed: Tian 2019	2-generation family, affected father/son	M	?	China	-	?	-	-	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685	-	FZD4	1	1	Dimitra Ilektra Lerou
00265245	7101	PubMed: Kondo 2016	2 generation family, 1 affected	M	no	Japan	-	-	-	-	lensectomy	EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), retinal detachment (HP:0000541), bilateral leukocoria (HP:0000555), blindness (HP:0000618)	ATOH7	ATOH7	1	1	Jasmine Chen
00265248	Patient 1 Khan 2016	PubMed: Khan 2016	2-generation family, unaffected parents/sisters, two affected brothers	M	?	United Arab Emirates	-	?	-	-	-	EVR;FEVR	Leukocoria HP:0000555 Retinal detachment HP:0000541	COL10A1, COL18A1, COL1A1, COL2A1, FZD4, KCNJ13, LRP5, NDP, RS1, TSPAN12, ZNF408	FZD4	1	2	Dimitra Ilektra Lerou
00265249	Patient 2 Khan 2016	PubMed: Khan 2016	2-generation family, unaffected parents/sisters, two affected brothers	M	?	United Arab Emirates	-	?	-	no	-	EVR;FEVR	Leukocoria HP:0000555 Retinal detachment HP:0000541	C10orf10, COL10A1, COL18A1, COL1A1, COL2A1, FZD4, KCNK13, LRP5, NDP, RS1, TSPAN12, ZNF408	FZD4	1	1	Dimitra Ilektra Lerou
00265251	12001	PubMed: Kondo 2016	sporadic	F	?	Japan	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral falciform retinal folds (HP:0001493)	ATOH7	ATOH7	1	1	Jasmine Chen
00265252	15402	PubMed: Kondo 2016	2 generation family, 2 affected (F, M), unaffected heterozygous carrier father	F	no	Japan	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), syndactyly (HP:0001159), renal failure (HP:0000083) left eye total retinal detachment (HP:0000541)	ATOH7	ATOH7	1	2	Jasmine Chen
00265257	QT409	PubMed: Sun 2019	-	M	no	China	-	-	-	-	-	EVR;FEVR	corneal opacity, occlusion of pupil, temporal dragging of optic disc, retinal detachment	CTNNB1	CTNNB1	1	1	Johan den Dunnen
00265265	14501	PubMed: Kondo 2016	sporadic	M	?	Japan	-	-	-	-	-	EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral rhegmatogenous retinal detachment (HP:0012230)	ATOH7	ATOH7	1	1	Jasmine Chen
00265288	Patient 1 Yang 2018 (son)	PubMed: Yang 2018	2-generation family, affected father/son	M	no	China	-	07y	-	yes	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685 Retinal fold HP:0008052	-	FZD4	1	2	Dimitra Ilektra Lerou
00265289	Patient 2 Yang 2018 (father)	PubMed: Yang 2018	2-generation family, affected father/son	M	?	China	-	32y	-	yes	-	EVR;FEVR	Peripheral retinal avascularization HP:0007685 Retinal fold HP:0008052	-	FZD4	1	1	Dimitra Ilektra Lerou
00265290	10877	PubMed: Ghiasvand 2011	9 generation consanguineous family, 42 affected	?	?	Iran	Kurdish (Iranian)	?	-	-	-	EVR;FEVR	nonsyndromic congenital retinal nonattachment (severe subtype of familial exudative vitreoretinopathy; HP:0030490), lack of optic nerve (HP:0008058), leukocoria (HP:0000555)	ATOH7	ATOH7	1	42	Jasmine Chen
00265291	3027001	PubMed: Fei 2015	-	F	no	China	Han	02y	-	yes	-	EVR;FEVR	Retinal fold HP:0008052 Retinal detachment HP:0000541 Glaucoma HP:0000501 Cataract HP:0000518	-	FZD4	1	1	Dimitra Ilektra Lerou
00265292	3060001	PubMed: Fei 2015	-	F	no	China	Han	03y	-	yes	-	EVR;FEVR	Cataract HP:0000518 Vitreous hemorrhage HP:0007902	-	FZD4	1	1	Dimitra Ilektra Lerou
00265304	Patient 1 Li 2017	PubMed: Li 2017	-	M	no	China	-	01y03m	-	yes	-	EVR;FEVR	Retinal detachment HP:0000541 Vitreous floaters HP:0100832 Microcephaly HP:0000252 Global developmental delay HP:0001263	-	CTNNB1	1	1	Dimitra Ilektra Lerou
00265305	Patient 1 Dixon 2016	PubMed: Dixon 2016	-	M	no	China	-	01y10m	-	yes	-	EVR;FEVR	Autism HP:0000717 Global developmental delay HP:0001263 Lipomeningocele HP:0030710 Retinal fold HP:0008052 Retinal detachment HP:0000541	-	CTNNB1	1	1	Dimitra Ilektra Lerou
00265315	QT675 IV:6	PubMed: Yang 2012	4 generation family, 4 affected	M	no	China	-	-	-	-	-	EVR;FEVR, ND	Norrie's disease (HP:0000407), total retinal detachment (HP:0000541)	NDP	NDP	1	4	Jasmine Chen
00265356	Family 1 III:1	PubMed: Kondo 2011	3 generation family, 5 affected	F	no	Japan	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP: 0030490)	TSPAN12	TSPAN12	1	5	Jasmine Chen
00265370	Family1PatII1	PubMed: Kondo 2011	PatII1	F	no	Japan	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00265371	Family1PatIII2	PubMed: Kondo 2011	PatIII2	M	no	Japan	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00265372	Family3PatII1	PubMed: Kondo 2011	2 generation family, 1 affected, isolated	M	no	Japan	-	-	-	-	vitrectomy	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), aphakia (HP:0007707), RE phthisis (HP:0000667)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00265640	Fam4PatII1	PubMed: Kondo 2011	2 generation family, 2 affected (father/daughter)	F	no	Japan	-	-	-	-	vitrectomy	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490)	TSPAN12	TSPAN12	1	2	Jasmine Chen
00269766	FamCPatII2	PubMed: Nikopoulos 2010a	3 generation family, 1 affected	F	no	Netherlands	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP: 0030490)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00271180	FamDPatIII2	PubMed: Nikopoulos 2010	3-generation family, 4 affected	F	no	Netherlands	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490)	TSPAN12	TSPAN12	1	4	Jasmine Chen

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Global Variome shared LOVD