All individuals with variants in gene CACNA2D4

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.

40 entries on 1 page. Showing entries 1 - 40.

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
00033146	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00183358	27486781-FamF5	PubMed: Coppieters 2016	3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	Algeria	-	-	-	-	-	retinal disease	progressive pattern-like reticular dystrophy, lung fibrosis	2	1	Johan den Dunnen
00290652	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00290653	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	71	Mohammed Faruq
00290654	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	42	Mohammed Faruq
00290655	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	18	Mohammed Faruq
00304342	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00308737	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00309014	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309015	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00327515	FamPatII4	PubMed: Gustafson 2017	3-generation family, 3 affected (3F), unaffected heterozygous parents	F	yes	United States	Jewish-Ashkenazi	-	-	-	-	retinal disease	see paper; ...	1	3	LOVD
00328317	W000244	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00358946	Case71134	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00362220	?	Fadaie 2021, submitted	-	F	-	Netherlands	-	-	-	-	-	retinal disease	-	2	1	Zeinab Fadaie
00362262	Pat53	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	deafness, retinal degeneration	-	1	1	Barbara Vona
00374962	W58-1	PubMed: Huang 2015	-	M	-	China	-	-	-	-	-	retinal disease	best corrected visual acuity 0.3/light perception	1	1	LOVD
00375414	RP#006	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376649	-	PubMed: Zeitz-2009	-	-	-	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376650	-	PubMed: Zeitz-2009	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382505	367	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386300	RPN-464	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386878	121-142	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386911	OGI943_001892	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00389283	567	PubMed: Weisschuh 2020	Filing key number: 204, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00390197	W000244	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390478	W000156	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00398392	-	PubMed: Dan 2020	uncle of III:2	M	?	China	-	-	-	-	-	retinal disease	Nyctalopia, vision decline, vision field defect	1	1	LOVD
00407358	RP-83	PubMed: Borràs 2013	-	-	-	Spain	Spanish	-	-	-	-	retinal disease	-	1	1	LOVD
00413039	II-1	PubMed: Wycisk 2006	proband	M	-	-	-	-	-	-	-	retinal disease	disease course: slight progressive reduction of visual acuity from 20/20 at age 18 years; first subjective changes at age 23y; visual acuity right; left eye: 20/32; 20/32; refractive errora (sph/cyl) right; left eye: -0.75/-0.25; -0.25/-0.50; color vision (confusion index) right; left eye: 1.78; 1.81; dark adaptation: slightly elevated (.5 log unit) final threshold; electroretinogram: scotopic: rod response just below the lower (5th) percentile range of unaffected, mixed rod/cone response (standard flash), slightly reduced; it normal, b/a-wave ratio markedly reduced (""negative"" erg), photopic: markedly reduced, prolonged implicit times; anterior segment: normal; fundus: slight mottling of the pigment epithelium in the foveal region, otherwise inconspic	1	1	LOVD
00413040	II-2	PubMed: Wycisk 2006	proband's sister	F	-	-	-	-	-	-	-	retinal disease	disease course: slow progressive reduction of visual acuity; first subjective changes 30y; visual acuity right; left eye: 20/32; 20/32; refractive errora (sph/cyl) right; left eye: -0.50/-0.50; -0.25/-0.50; color vision (confusion index) right; left eye: 2.17; 1.95; dark adaptation: normal final threshold; electroretinogram: scotopic: rod response just below the lower (5th) percentile range of unaffected, mixed rod/cone response (standard flash) slightly reduced, implicit times normal, b/a ratio markedly reduced (""negative"" erg), photopic: markedly reduced, prolonged implicit times; anterior segment: posterior synechiae after iridocyclitis (at age 33 years); fundus: left eye, slight mottling of the pigment epithelium in the foveal region, epiretinal gliosis left eye, otherwise inconspic	1	1	LOVD
00413041	1	PubMed: Ba-Abbad 2016	proband	F	no	-	Indian	-	-	-	-	retinal disease	lifelong stable subnormal visual acuity of approximately 20/30, low color discrimination, and photophobia (18y); moderate myopic astigmatism, poor contrast perception, inability to track fast moving objects; no consanguinity, no significant medical or drug history; electroretinogram stable at 4 time points, over an 8-year period, with generalized predominantly inner retinal cone system dysfunction, giving a single flash cone electroretinogram with a distinctive multiphasic b-wave; pattern electroretinogram: delayed and subnormal	1	1	LOVD
00413042	2	PubMed: Ba-Abbad 2016	proband	F	no	-	Ashkenazi Jewish Romanian	-	-	-	-	retinal disease	lifelong stable subnormal visual acuity of approximately 20/30, low color discrimination, and photophobia (40y); emmetropic; no parental consanguinity and no other affected family members, 2 brothers and 2 sons apparently have a red-green color defect; electroretinogram: performed twice (9-year interval) - stable generalized predominantly inner retinal cone system dysfunction, giving a cone electroretinogram with a distinctive multiphasic b-wave; attern electroretinogram: subnormal, possible rod dysfunction was noted at follow-up	1	1	LOVD
00413043	?	PubMed: Chiang 2018	-	?	-	United States	Ashkenazi Jewish	-	-	-	-	retinal disease	-	1	1	LOVD
00450730	072152	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	2	1	Rebekkah Hitti-Malin
00450731	072231	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00450732	074196	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00451036	065841	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen
00451102	070523	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen
00451226	072195	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen
00459539	patient;PatB	PubMed: Szczałuba 2018, PubMed: Chmielewska 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Poland	-	-	-	-	-	NDD	see paper; ..., pregnancy complicated by maternal kidney stones, hyperemesis; birth-37w cesarean section, weight 3580g (75th), length 56cm (50th), OFC 34cm (25th-50th); no congenital anomalies, no dysmorphic features; feeding difficulties, constipation, frequent infections, slightly raised body temperature, allergy to cow's milk; intellectual disability; developmental delay, autistic features; hypotonia; increased immunoglobulin E; 13m-delayed teeth eruption; neurologic sensory; MRI normal non-contrast; no muskuloskeletal anomalies; no cardiac anomalies	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

CACNA2D4 (calcium channel, voltage-dependent, alpha...)