All individuals with variants in gene PRPF3

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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	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
>	Date	>2020-06	all entries after June, 2020
>=	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
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

93 entries on 1 page. Showing entries 1 - 93.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00052949	32	PubMed: Wang 2014	-	F	?	United States	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Muhammad Ajmal
00231978	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231979	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231980	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00231981	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00309307	-	PubMed: Sharon 2019	family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00320015	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00333506	50	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333588	297	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiv	1	1	LOVD
00335646	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335647	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335948	RP391	PubMed: Roberts 2016	family, see paper	-	-	South Africa	Tswana	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00359381	264	PubMed: Bravo-Gil 2016	see paper	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363873	MOL0108	PubMed: Beryozkin 2015, PubMed: Sharon 2019	family	-	-	Israel	Jewish-Yemenite	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00372647	RP259	PubMed: Xu 2014	family	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372698	RP372	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373486	RP0258	PubMed: Fernandez-San Jose 2015	family, 4 affected	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	4	LOVD
00373812	Pat9	PubMed: Méndez-Vidal 2014	-	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377393	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377394	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377395	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377818	-	PubMed: Avila Fernandez 2010	-	-	-	-	Spanish	-	-	-	-	retinal disease	-	1	1	LOVD
00377943	-	PubMed: _Audo-2012	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380246	-	PubMed: Kim-2012	-	F	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380247	-	PubMed: Kim-2012	-	F	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383071	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383076	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383077	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383079	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383086	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00383099	-	PubMed: Anasagasti-2013	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384324	13683	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385174	67	PubMed: Jiman 2020	-	M	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	HP:0002652 Skeletal dysplasia; HP:0000510 Rod-cone dystrophy	1	1	LOVD
00386193	RPN-309	PubMed: Rodriguez-Munoz 2020	family fRPN-147, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386194	RPN-310	PubMed: Rodriguez-Munoz 2020	family fRPN-147, family member	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386264	RPN-106	PubMed: Rodriguez-Munoz 2020	family fRPN-39, proband	M	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386603	099-025	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386769	OGI2918_004503	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386980	6	PubMed: Jauregui 2020	-	M	-	(United States)	white	-	-	-	-	retinal disease	-	1	1	LOVD
00389504	788	PubMed: Weisschuh 2020	Filing key number: 307, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389556	840	PubMed: Weisschuh 2020	Filing key number: 347, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389557	841	PubMed: Weisschuh 2020	Filing key number: 347, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389558	842	PubMed: Weisschuh 2020	Filing key number: 347, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389559	843	PubMed: Weisschuh 2020	Filing key number: 347, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389973	1257	PubMed: Weisschuh 2020	Filing key number: 1049, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00390758	-	PubMed: Booij-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00394483	-	PubMed: Colombo-2020	-	M	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00394484	-	PubMed: Colombo-2020	-	F	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395861	F257	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395925	F169	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407281	001-005	PubMed: Wada 2005	-	M	-	United States	American	-	-	-	-	retinal disease	bone-spicule pigment +/+	1	1	LOVD
00409525	III:9	PubMed: Meng 2017	-	M	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: light perception, light perception; eye complications: cataract	1	1	LOVD
00409526	IV:1	PubMed: Meng 2017	-	F	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: light perception, light perception; eye complications: cataract	1	1	LOVD
00409527	IV:10	PubMed: Meng 2017	-	M	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: 20/200, 20/200; eye complications: none	1	1	LOVD
00409528	IV:14	PubMed: Meng 2017	-	M	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: 20/100, 20/200; eye complications: cataract	1	1	LOVD
00409529	IV:20	PubMed: Meng 2017	-	M	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: 20/100, 20/200; eye complications: none	1	1	LOVD
00409530	IV:6	PubMed: Meng 2017	-	M	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: light perception, light perception; eye complications: cataract	1	1	LOVD
00409531	V:12	PubMed: Meng 2017	-	M	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: 20/100, 20/100; eye complications: myopia	1	1	LOVD
00409532	V:3	PubMed: Meng 2017	-	F	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: 20/10, 20/200; eye complications: none; systemic diseases: breast cancer	1	1	LOVD
00409533	V:9	PubMed: Meng 2017	-	M	-	-	Chinese	-	-	-	-	BCD	best corrected visual acuity right, left eye: 20/200, light perception; eye complications: myopia	1	1	LOVD
00420490	F169	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00420552	F257	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00420783	21954_II:2	PubMed: Wang 2022	family 21954, individual II:2; parents healthy, untested	M	-	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00420784	23188_II:2	PubMed: Wang 2022	family 23188, individual II:2; 2-generation family, 2 affected	M	-	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00420785	4635_II:1	PubMed: Wang 2022	family 4635, individual II:1; 2-generation family, 2 affected	M	-	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00420786	20827_II:1	PubMed: Wang 2022	family 20827, individual II:1; parents healthy, untested	F	-	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00420787	18941_II:4	PubMed: Wang 2022	family 18941, individual II:4; parents healthy, untested	M	-	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00420788	9982_I:2	PubMed: Wang 2022	family 9982, individual I:2; 2-generation family, 2 affected	F	-	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00420789	9982_II:1	PubMed: Wang 2022	family 9982, individual II:1; 2-generation family, 2 affected	F	-	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00426741	-	PubMed: Chakarova 2002	-	-	-	United Kingdom (Great Britain)	English	-	-	-	-	retinal disease	-	1	1	LOVD
00426742	-	PubMed: Chakarova 2002	-	-	-	United Kingdom (Great Britain)	British	-	-	-	-	retinal disease	-	1	1	LOVD
00426743	-	PubMed: Chakarova 2002	-	-	-	-	Danish	-	-	-	-	retinal disease	-	1	1	LOVD
00426744	-	PubMed: Chakarova 2002	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00426745	-	PubMed: Chakarova 2002	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00426746	-	PubMed: Wada 2004	-	F	-	Japan	Japanese	-	-	-	-	retinal disease	VA:hand motion in both eyes (40y)	1	1	LOVD
00426747	-	PubMed: Wada 2004	-	F	-	Japan	Japanese	-	-	-	-	retinal disease	VA:0.9 in the right eye; mild attenuation of the retinal vessels and a mottled appearance of the retinal pigment epithelium	1	1	LOVD
00426748	-	PubMed: Wada 2004	-	M	-	Japan	Japanese	-	-	-	-	retinal disease	BCVA:s 0.4 with -5.75 to 3.5160 OD and 0.4 with -5.25 to 3.0180 OS	1	1	LOVD
00426749	III.3	PubMed: Vaclavik 2010	-	F	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:0.3/OS:0.4; Bilateral cataract operation; Optic nerve palor, migration of pigment in mid periphery	1	1	LOVD
00426750	IV.3	PubMed: Vaclavik 2010	-	M	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:0.6/OS:0.6; Subcapsular cataract since 25y; AF: ring of high density autofluorescence	1	1	LOVD
00426751	IV.4	PubMed: Vaclavik 2010	-	M	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:0.4/OS:0.3; absent ; migration of retinal pigment epithelium in mid periphery	1	1	LOVD
00426752	III.8	PubMed: Vaclavik 2010	-	M	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:0.4/OS:0.1; Bilateral cat op aged 43y; Optic nerve palor	1	1	LOVD
00426753	IV.6	PubMed: Vaclavik 2010	-	F	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:0.9/OS:0.8; Bilateral cat op aged 38y; Previous buckling for bilateral retinal detach.	1	1	LOVD
00426754	III.9	PubMed: Vaclavik 2010	-	F	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:0.8/OS:0.6; Bilateral cat op aged 60y; AF: ring of high density autofluorescence	1	1	LOVD
00426755	IV.9	PubMed: Vaclavik 2010	-	F	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:1.0/OS:1.0; absent ; AF: ring of high density autofluorescence. No obvious pigment deposits.	1	1	LOVD
00426756	V.11	PubMed: Vaclavik 2010	-	M	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:1.0/OS:1.0; absent ; AF: ring of high density autofluorescence	1	1	LOVD
00426757	III.13	PubMed: Vaclavik 2010	-	M	-	Switzerland	Swiss	-	-	-	-	retinal disease	VA: OD:0.5/OS:0.8; Bilateral cat op aged 49y; optic neuritis aged 20 years	1	1	LOVD
00426758	Family 020001	PubMed: Zhong 2016	-	-	-	China	Chinese	-	-	-	-	retinal disease	-	1	7	LOVD
00426759	Family 020021	PubMed: Zhong 2016	-	-	-	China	Chinese	-	-	-	-	retinal disease	-	1	3	LOVD
00429650	-	PubMed: Panneman 2023	-	M	-	-	-	-	-	-	-	RP	-	1	1	Daan Panneman
00436455	3561418	Villafuerte-de la Cruz RA, et al., 2023. Submitted	-	M	no	Mexico	Hispanic	-	-	-	none	retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness	Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510	1	1	Rocio Villafuerte-de la Cruz
00447429	USHII-341	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00447491	ADRP-507	PubMed: Weisschuh 2024	family, >3 affected	M	-	Germany	-	-	-	-	-	?	-	1	4	Johan den Dunnen
00447625	SRP-1300	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

PRPF3 (PRP3 pre-mRNA processing factor 3 homolog ...))