Disease #03306 (EVR5 (vitreoretinopathy, exudative, type 5 (EVR5)), OMIM:613310)

Official abbreviation	EVR5
Name	vitreoretinopathy, exudative, type 5 (EVR5)
OMIM ID	613310
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	51
Phenotype entries for this disease	14
Associated with 1 gene	TSPAN12
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-04-30 09:59:41 +02:00 (CEST)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

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.

How to query this table

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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51 entries on 1 page. Showing entries 1 - 51.

Legend

How to query

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
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
00271181	FamAPatIII7	PubMed: Nikopoulos 2010	4 generation family, 7 affected, 1 unknown clinical significance (3F, 4M)	M	no	Netherlands	-	-	-	-	-	EVR5, EVR;FEVR	-	-	TSPAN12	1	7	Jasmine Chen
00271182	FamBPatII5	PubMed: Nikopoulos 2010	4 generation family, 10 affected (6F, 4M), one healthy with mutation)	F	no	Netherlands	-	?	-	-	-	EVR5, EVR;FEVR	-	-	TSPAN12	1	10	Jasmine Chen
00271183	FamEPatII1	PubMed: Nikopoulos 2010	2 generation family, 3 affected	M	no	Netherlands	-	-	-	-	-	EVR5, EVR;FEVR	-	TSPAN12	TSPAN12	1	3	Jasmine Chen
00271310	Family 1 III:2	PubMed: Poulter 2010	3 generation family, 1 affected (1 unusual fundus appearance), 1 carrier	F	no	Australia	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), macular ectopia (HP:0001103), left eye retinal folds (HP:0008052)	TSPAN12	TSPAN12	1	2	Jasmine Chen
00271313	Family 2 II:3	PubMed: Poulter 2010	proband, 2 generation family, 2 affected	F	no	Japan	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)	TSPAN12	TSPAN12	1	2	Jasmine Chen
00271314	Individual Patient 1	PubMed: Poulter 2010	Isolated patient (no reported eye problems in family)	F	?	United States	-	-	-	-	-	EVR5, EVR;FEVR	exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052), persistent hyperplastic primary vitreous (HP:0007968)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00271315	Individual Patient 2	PubMed: Poulter 2010	Isolated individual	F	?	United Kingdom (Great Britain)	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral temporal retinal avascularity (HP:0007685), traction of retinal vasculature (HP:0007917)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00271316	Family 3 III:1	PubMed: Poulter 2010	3 generation family, 2 affected	F	no	United States	European	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)	TSPAN12	TSPAN12	1	2	Jasmine Chen
00271317	Family 4 II:1	PubMed: Poulter 2010	2 generation family, 2 affected	M	no	United Kingdom (Great Britain)	-	-	-	-	-	EVR5, EVR;FEVR	severe familial exudative vitreoretinopathy (HP:0030490)	TSPAN12	TSPAN12	1	2	Jasmine Chen
00271318	Individual Patient 3	PubMed: Poulter 2010	No reported family history of disease	M	?	Australia	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral macular traction (HP:0031151)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00271319	HMH IV:2	PubMed: Poulter 2012	5 generation family, 3 severely affected, 9 mildly affected, 2 phenocopy	F	no	Mexico	-	-	-	-	-	EVR5, EVR;FEVR	mild familial exudative vitreoretinopathy (HP:0030490)	TSPAN12	TSPAN12	1	9	Jasmine Chen
00271320	HMH V:7	PubMed: Poulter 2012	5 generation family, 3 severely affected, 2 mildly affected, 2 phenocopy	M	?	Mexico	-	-	-	-	-	EVR5, EVR;FEVR	severe familial exudative vitreoretinopathy (HP:0030490), tractional retinal detachment (HP:0007917)	TSPAN12	TSPAN12	1	3	Jasmine Chen
00271321	VL IV:1	PubMed: Poulter 2012 PubMed: Savarese 2014	4 generation family, 1 affected	F	yes	Pakistan	-	-	-	-	-	CF, EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)	CFTR, TSPAN12	CFTR, TSPAN12	2	1	Jasmine Chen
00271322	TM IV:1	PubMed: Poulter 2012	4 generation family, 1 severely affected, 3 mildly affected	F	yes	India	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)	TSPAN12	TSPAN12	1	4	Jasmine Chen
00271323	TM III:9	PubMed: Poulter 2012	4 generation family, 1 severely affected, 3 mildly affected	M	no	India	-	-	-	-	-	EVR5, EVR;FEVR	unilateral congenital visual loss (HP:0030553), persistent hyperplasia primary vitreous (HP:0007968)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00271324	Individual 1	PubMed: Poulter 2012	Sporadic patient	F	no	United Kingdom (Great Britain)	Nigerian	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral congenital cataracts (HP:0000518), persistent hyperplasia primary vitreous (HP:0007968), retinal fold left eye (HP:0008052)	TSPAN12	TSPAN12	2	1	Jasmine Chen
00271328	Patient 1	PubMed: Seo 2016	information on family not known	M	?	Korea, South (Republic)	-	01y08m	-	-	-	CHTD, CLP, EVR5, EVR;FEVR, ID	familial exudative vitreoretinopathy (HP:0030490)	TSPAN12	-	-	1	Jasmine Chen
00271329	Patient 2	PubMed: Seo 2016	pedigree not available, at least 2 affected	F	?	Korea, South (Republic)	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), macular dragging left eye (HP:0031151)	TSPAN12	TSPAN12	1	2	Jasmine Chen
00271330	Patient 2s	PubMed: Seo 2016	sibling of Patient 2, no other pedigree information available	M	?	Korea, South (Republic)	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490)	TSPAN12	-	-	1	Jasmine Chen
00271331	Patient 3	PubMed: Seo 2016	pedigree unavailable	M	?	Korea, South (Republic)	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), esotropia left eye (HP:0000565)	TSPAN12	-	-	1	Jasmine Chen
00271332	Patient 4	PubMed: Seo 2016	pedigree unavailable	M	?	Korea, South (Republic)	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), bilateral macular dragging (HP:0031151)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00271334	Family 1 II:1	PubMed: Yang 2011	2 generation family, 1 affected	M	no	China	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), falciform retinal folds left eye (HP:0001493), strabismus (HP:0000486)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00271335	Family 2 II:1	PubMed: Yang 2011	2 generation family, 1 affected	M	no	China	-	-	-	-	-	EVR5, EVR;FEVR	-	TSPAN12	TSPAN12	1	1	Jasmine Chen
00271336	Family 3 II:1	PubMed: Yang 2011	2 generation family, 1 affected	F	no	China	-	-	-	-	-	EVR5, EVR;FEVR	familial exudative vitreoretinopathy (HP:0030490), esotropia (HP:0000565)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00274333	A II:1	PubMed: Xu 2014	2 generation family, 1 affected	F	no	China	-	-	-	-	-	EVR5, EVR;FEVR	exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00274334	B II:1	PubMed: Xu 2014	2 generation family, 1 affected	F	no	China	-	-	-	-	-	EVR5, EVR;FEVR	exudative vitreoretinopathy (HP:0030490), esotropia (HP:0000565), falciform retinal folds (HP:0001493)	TSPAN12	TSPAN12	1	1	Jasmine Chen
00274335	C II:1	PubMed: Xu 2014	2 generation family, 1 affected	M	no	China	-	-	-	-	-	EVR5, EVR;FEVR	exudative vitreoretinopathy (HP:0030490), LE dragged disk	TSPAN12	TSPAN12	1	1	Jasmine Chen
00274336	V-1	PubMed: Gal 2014	5 generation family, 13 affected	M	yes	(Israel)	Bedouin	-	-	-	-	EVR5, EVR;FEVR, ND, PHPVAR	blindness (HP:0000618), phthisis bulbi (HP:0000667)	-	TSPAN12	1	13	Jasmine Chen
00274337	V-8	PubMed: Gal 2014	5 generation family, 13 affected	M	yes	Israel	Bedouin	-	-	-	-	EVR5, EVR;FEVR, ND, PHPVAR	total retinal detachment (HP:0000541)	-	TSPAN12	1	12	Jasmine Chen
00274354	IV:1	PubMed: Li 2019	4 generation family, 6 affected (2 severe, 4 mild)	M	no	China	-	-	-	-	-	EVR5, EVR;FEVR, PHPVAR	exudative vitreoretinopathy (HP:0030490), mild persistent hyperplasia of the primary vitreous (HP:0007968)	-	TSPAN12	1	6	Jasmine Chen
00287054	Fam	PubMed: Carroll 2019	family, affected and asymptomatic heterozygous carriers	F	?	-	white	-	-	-	laser-assisted in situ keratomileusis (LASIK)	EVR5	best-corrected visual acuity (BCVA) in each eye was 20/20. Intraocular pressures were normal and there was no relative afferent pupillary defect. Slit lamp examination (SLE) was significant for LASIK flaps in each eye. Dilated funduscopic examination (DFE) was similar in both eyes and revealed crowded discs, normal maculae, and dragged and straightened posterior vessels. Peripheral retina examination revealed areas of pigment clumping with an abrupt termination of vasculature temporally; additionally, seafan-like lesions were seen in both eyes (Figure 1a,b). Ultra wide- field fluorescein angiography (UWFA) demonstrated marked temporal retinal nonperfusion with “brush-border” leakage and intense hyperfluorescence corresponding to the afore- mentioned peripheral lesions bilaterally	FZD4, LRP5, NDP, TSPAN12, ZNF408	TSPAN12	1	3	Dong Sun
00287055	Fam	PubMed: Carroll 2019	younger sister	F	?	-	white	-	-	-	-	EVR5	no past medical history and a past ocular history of LASIK in both eyes. BCVA was 20/20 and SLE showed LASIK flaps and posterior vitreous detachment bilaterally. DFE showed mild temporal vascular dragging as well as peripheral pigmentary clumping in both eyes. UWFA showed avascularity in the far temporal retina as well as mild staining along some peripheral vessels in both eyes	FZD4, LRP5, NDP, TSPAN12, ZNF408	TSPAN12	1	1	Dong Sun
00287068	Fam	PubMed: Carroll 2019	mother	F	-	-	white	-	-	-	-	EVR5	no past medical history and a past ocular history of LASIK in both eyes. BCVA was 20/20 and SLE showed LASIK flaps bilaterally. DFE showed supernumerary vessels in both eyes as well as mild temporal dragging with abrupt termination of retinal vessels associated with fibrovascular tissue in the left eye. UWFA showed patchy staining of peripheral retinal vessels in the right eye and a wedge-shaped area of temporal nonperfusion with “brush border” leakage in the left eye	FZD4, LRP5, NDP, TSPAN12, ZNF408	TSPAN12	1	1	Dong Sun
00287069	Fam1PatI2	PubMed: Yuan 2019	2-generation family, mother/daughter/son	F	?	China	Chinese	-	-	-	-	EVR5	"The Fundus photography and FFA examination of her showed that temporal peripheral ischemia led to neovascularization, dilation of peripheral retinal vessels, and fluorescein leakage in both eyes"	-	TSPAN12	1	3	Dong Sun
00287070	Fam1PatII1	PubMed: Yuan 2019	daughter	F	?	China	Chinese	-	-	-	-	EVR5	-	-	TSPAN12	1	1	Dong Sun
00287071	Fam1PatII2	PubMed: Yuan 2019	son	M	?	(China)	Chinese	-	-	-	-	EVR5	-	-	TSPAN12	1	2	Dong Sun
00287072	Fam2PatI1	PubMed: Yuan 2019	2-generation family, affected father/daughter	M	?	China	Chinese	-	-	-	-	EVR5	"The Fundus photography and FFA examination of her father showed that temporal peripheral ischemia leads to dilation of the brush-like peripheral retinal vessels in both eyes and neovascularization and fluorescein leakage in the right eye"	-	TSPAN12	1	2	Dong Sun
00287073	Fam2PatII1	PubMed: Yuan 2019	daughter	F	?	China	Chinese	-	-	-	-	EVR5	"the proband suffered ophthalmic problems and presented retinal detachment since birth"	-	TSPAN12	1	1	Dong Sun
00287074	Fam3PatI2	PubMed: Yuan 2019	2-generation family, affected mother/daughter	F	?	China	Chinese	-	-	-	-	EVR5	-	-	TSPAN12	1	2	Dong Sun
00287075	Fam3PatII1	PubMed: Yuan 2019	daughter	F	?	China	Chinese	-	-	-	-	EVR5	"the proband was confirmed as having FEVR and presented with mild vitreous opacity"	-	TSPAN12	1	1	Dong Sun
00287076	Fam4PatII2	PubMed: Yuan 2019	3-generation family, 3 affected (2F, M)	F	?	China	Chinese	-	-	-	-	EVR5	-	-	TSPAN12	1	3	Dong Sun
00287077	Fam4PatII3	PubMed: Yuan 2019	brother	M	?	China	Chinese	-	-	-	-	EVR5	-	-	TSPAN12	1	1	Dong Sun
00287078	Fam4PatIII1	PubMed: Yuan 2019	daughter	F	?	China	Chinese	-	-	-	-	EVR5	"the proband developed retinal detachment in both her eyes"	-	TSPAN12	1	1	Dong Sun
00382141	273	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	-	-	-	EVR5	retinal dystrophy; MIM, 613310 (recessive forms reported)	TSPAN12	TSPAN12	1	1	LOVD

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Global Variome shared LOVD

ATP2C1 (ATPase, Ca++ transporting, type 2C, member 1)