All individuals with variants in gene PRPF6

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.

41 entries on 1 page. Showing entries 1 - 41.

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
00104700	22235333-FamParry	PubMed: Boehme 1971, PubMed: Velinov 2012, Journal: Velinov 2012	7-generation family, 22 affecteds (13F, 9M)	F;M	no	United States	-	-	-	-	-	CLN4B	see paper; ...	1	22	Johan den Dunnen
00233526	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233527	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233528	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233529	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233530	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233531	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00233532	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233533	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00292972	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00309312	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00328395	690302	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328396	680402	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328397	690509	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00334427	RP-068	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334428	RP-081	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372705	RP058	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00374940	W74-1	PubMed: Huang 2015	-	F	-	China	-	-	-	-	-	retinal disease	best corrected visual acuity 0.25/0.25	1	1	LOVD
00374942	W44-1	PubMed: Huang 2015	-	F	-	China	-	-	-	-	-	retinal disease	best corrected visual acuity 0.04/0.04	1	1	LOVD
00375339	K6283	PubMed: Oishi 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375416	RP#008	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376746	41	PubMed: Wang 2014	-	F	-	United States	-	-	-	-	-	retinal disease	-	2	1	LOVD
00377412	?	PubMed: Martin-Merida 2018	-	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379405	-	PubMed: Zhou 2011	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379406	-	PubMed: Zhou 2011	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379407	-	PubMed: Zhou 2011	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385414	F25-II-2	PubMed: Chen 2020	-	F	-	Taiwan	-	-	-	-	-	retinal disease	49	1	1	LOVD
00386189	RPN-303	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386851	OGI717_001428	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00392360	19479	PubMed: Xiao-2021	-	F	-	China	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.2/0.2, electroretinograhy responses: not available	1	1	LOVD
00394491	-	PubMed: Colombo-2020	-	F	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395878	F111	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00416300	001-173, IV-1	PubMed: Tanackovic 2011	-	M	-	-	-	-	-	-	-	retinal disease	37y: night vision deficiency and loss of side vision; best-corrected visual acuity right, left eye: 20/30, 20/40; slit-lamp examination central posterior subcapsular cataracts both eyes; fundus: normal optic disc, some atrophy just temporal to the disc, clear macula, attenuated retinal arterioles, and bone spicule pigment 360deg around the periphery; final dark adaptation threshold elevated 3.0 log units; Goldmann visual field: in a V-4e white test light constricted to a 25deg diameter with a peripheral crescent in each eye; full-field electroretinograms:(electroretinograms): substantially reduced, and he had dark-adapted mixed cone-rod responses to 0.5 Hz white light right/left eye: 5.6 uV / 4.9 uV (lower norm = 350 uV) and cone responses to 30 Hz white flicker of 0.4 uV right eyeand 0.7 uV left eye(lower norm = 50 uV); 47y: cataract surgery left eye. 48y right eye; reoperation 49y - extensive inflammation, acuity never recovered right eye; left eye acuity. gradually decreased, also further loss of peripheral vision both eyes; best-corrected visual acuity right, left eye: hand motions, 20/100; slit-lamp examination: pseudophakia both eyes; fundus: waxy pallor of each disc, atrophy of the retinal pigment epithelium and prominent choroidal vessels in each macula, attenuated retinal vessels, and bone spicule pigment visible in the midperiphery; final dark-adaptation threshold elevated 5.0 log units; visual field constricted by confrontation to about a 10deg diameter right eye and a 20deg diameter left eye; full-field electroretinograms in response to 0.5-Hz white light: non-detectable (i.e., less than 1.0 uV), reduced to 0.26 uV right eye and 0.15 uV left eye in response to 30 Hz white flicker. (virtual blindness, i.e., loss of the ability to walk independently in a well-lighted room, occurs when 30 Hz cone flicker electroretinogram responses are <=0.05 uV)	1	1	LOVD
00416301	218-479, IV:2	PubMed: Tanackovic 2011	-	M	-	-	-	-	-	-	-	retinal disease	night vision deficiency since age 16 and loss of side vision in his 40; worse than in proband, vision gradually decreased to light perception in both eyes by age 54	1	1	LOVD
00416302	CSUASOi004-A	PubMed: Zhou 2020	induced pluripotent stem cell line derived by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00420459	F111	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00429657	-	PubMed: Panneman 2023	-	M	-	-	-	-	-	-	-	RP	-	1	1	Daan Panneman
00429752	-	PubMed: Panneman 2023	-	F	-	-	-	-	-	-	-	RP	-	1	1	Daan Panneman
00438693	HSJ0719	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00446928	ADRP-221-1	PubMed: Weisschuh 2024	family, >3 affected	F	-	Germany	-	-	-	-	-	?	-	1	4	Johan den Dunnen
00446929	ADRP-221-2	PubMed: Weisschuh 2024	relative	M	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

PRPF6 (PRP6 pre-mRNA processing factor 6 homolog ...))