All individuals with variants in gene SLC24A1

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.

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	Variants	Panel size	Owner
00058628	-	PubMed: Neuillé 2016	-	-	-	-	-	-	-	-	-	CSNB	Riggs type of electroretinogram	2	1	Christina Zeitz
00058629	-	PubMed: Neuillé 2016	-	-	-	-	-	-	-	-	-	CSNB	Riggs type of electroretinogram	2	1	Christina Zeitz
00058630	-	PubMed: Neuillé 2016	-	-	yes	-	-	-	-	-	-	CSNB	-	2	1	Christina Zeitz
00095957	61070	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	CSNB	-	1	1	James Hejtmancik
00100087	PKRD138;61138	PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017	-	F	yes	Pakistan	Pakistani	-	-	-	-	retinal disease	RP, deafness	1	1	James Hejtmancik
00291278	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	7	Mohammed Faruq
00299641	FamGC3626Pat2	PubMed: Arno 2017	2-generation family, 1 affeted	M	-	-	-	-	-	-	-	retinal disease	see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90	1	1	Johan den Dunnen
00333364	Pat4	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333858	78	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	2	1	LOVD
00335169	7909	PubMed: Haer-Wigman 2017	family	-	no	Netherlands	-	-	-	-	-	?	43y-diagnosis visual impairment	2	1	LOVD
00335994	-	PubMed: Sergouniotis 2016	analysis 486 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00335995	-	PubMed: Sergouniotis 2016	analysis 486 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	2	LOVD
00358748	-	PubMed: Carrigan 2016	-	-	-	Ireland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358947	Case71472	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00383926	RP-0553	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384158	RP-2782	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414118	243-002	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414119	088-005	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414120	003-185	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414121	233-010	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414122	038-051	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414123	263 patients	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414124	187-001	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414125	3 patients: 001-346, 088-004, 099-026	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414126	92 patients	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414127	048-036	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414128	2 patients: 003-112, 003-114	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414129	001-217	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414130	?	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414131	048-069	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414132	063-008	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414133	?	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414134	121-245	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414135	274-011	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414136	121-067	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414137	041-001	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414138	003-128	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414139	2 patients: 001-412, 001-459	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414140	?	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414141	?	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414142	003-156	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414143	?	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414144	2 patients: 003-147, 274-008	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414145	009-012	PubMed: Sharon 2002	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00414160	14	PubMed: Riazuddin 2010	Family PKRP070	F	yes	Pakistan	Punjab	-	-	-	-	retinal disease	best corrected visual acuity right, left eye: 6/6, 6/6; fundus findings: no macular atrophy, no pigment deposition, and no vascular attenuation; electroretinographic characteristics: a- and b-waves absent under the scotopic condition, whereas the cone responses somewhat reduced under the photopic condition	1	1	LOVD
00414161	18	PubMed: Riazuddin 2010	Family PKRP070	M	yes	Pakistan	Punjab	-	-	-	-	retinal disease	best corrected visual acuity right, left eye: 6/6, 6/24; fundus findings: no macular atrophy, no pigment deposition, and no vascular attenuation; electroretinographic characteristics: a- and b-waves absent under the scotopic condition, whereas the cone responses somewhat reduced under the photopic condition	1	1	LOVD
00414162	25	PubMed: Riazuddin 2010	Family PKRP070	F	yes	Pakistan	Punjab	-	-	-	-	retinal disease	-	1	1	LOVD
00414163	28	PubMed: Riazuddin 2010	Family PKRP070	M	yes	Pakistan	Punjab	-	-	-	-	retinal disease	best corrected visual acuity right, left eye: 6/18, 6/9; fundus findings: no macular atrophy, no pigment deposition, and no vascular attenuation; electroretinographic characteristics: a- and b-waves absent under the scotopic condition, with normal cone responses under the photopic condition	1	1	LOVD
00414164	34	PubMed: Riazuddin 2010	Family PKRP070	F	yes	Pakistan	Punjab	-	-	-	-	retinal disease	best corrected visual acuity right, left eye: 6/6, 6/6; fundus findings: no macular atrophy, no pigment deposition, and no vascular attenuation; electroretinographic characteristics: a- and b-waves absent under the scotopic condition, with normal cone responses under the photopic condition	1	1	LOVD
00429762	-	PubMed: Panneman 2023	-	F	-	-	-	-	-	-	-	RP	-	2	1	Daan Panneman
00447014	ARRP-482	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

SLC24A1 (solute carrier family 24 (sodium/potassiu...))