All individuals with variants in gene CLN8

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.

100 entries on 1 page. Showing entries 1 - 100.

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
00104606	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104607	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104608	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104609	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104610	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104611	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104612	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104613	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104614	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104615	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104616	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104617	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104618	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104619	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104620	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104621	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104622	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104623	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104624	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104625	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104626	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104627	10508524-?	PubMed: Ranta 1999, copied from Batten disease database	founder effect, 22 patients	-	-	Finland	-	-	-	-	-	CLN	progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104628	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology fingerprint condensed	1	1	Johan den Dunnen
00104629	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology fingerprint condensed	1	1	Johan den Dunnen
00104630	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology fingerprint condensed	1	1	Johan den Dunnen
00104631	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology fingerprint condensed, curvilinear/fingerprint condensed	1	1	Johan den Dunnen
00104632	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology fingerprint condensed, curvilinear/fingerprint condensed	1	1	Johan den Dunnen
00104633	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology fingerprint condensed, curvilinear/fingerprint condensed	1	1	Johan den Dunnen
00104634	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology fingerprint condensed	1	1	Johan den Dunnen
00104635	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology fingerprint condensed	1	1	Johan den Dunnen
00104636	16828266-?	PubMed: Siintola 2006a, copied from Batten disease database	-	-	-	Finland	-	-	-	-	-	CLN	mild progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104637	16828266-?	PubMed: Siintola 2006a, copied from Batten disease database	-	-	-	Finland	-	-	-	-	-	CLN	mild progressive epilepsy with mental retardation	1	1	Johan den Dunnen
00104638	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	11589000	-	-	Turkey	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104639	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	11589000	-	-	Turkey	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104640	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	11589000; Siblings	-	-	Turkey	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104641	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	11589000; Siblings	-	-	Turkey	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104642	15024724-?	PubMed: Ranta 2004, copied from Batten disease database	11589000	-	-	Turkey	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104643	19201763-?	PubMed: Kousi 2009, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	histology NCL inclusions	1	1	Johan den Dunnen
00104644	19201763-?	PubMed: Kousi 2009, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00104645	16570191-?	PubMed: Cannelli 2006, copied from Batten disease database	-	-	-	Italy	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104646	16570191-?	PubMed: Cannelli 2006, copied from Batten disease database	-	-	-	Italy	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104647	16570191-?	PubMed: Cannelli 2006, copied from Batten disease database	-	-	-	Italy	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104648	16570191-?	PubMed: Cannelli 2006, copied from Batten disease database	-	-	-	Italy	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104649	16570191-?	PubMed: Cannelli 2006, copied from Batten disease database	-	-	-	Italy	-	-	-	-	-	CLN	histology CV / FP / GROD-like	1	1	Johan den Dunnen
00104650	19431184-?	PubMed: Vantaggiato 2009, copied from Batten disease database	Maternal Uniparental Disomy	-	-	Italy	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104651	19807737-?	PubMed: Reinhardt 2010, copied from Batten disease database	-	-	-	Germany	-	-	-	-	-	CLN	histology CL	1	1	Johan den Dunnen
00104652	19807737-?	PubMed: Reinhardt 2010, copied from Batten disease database	-	-	-	Pakistan	-	-	-	-	-	CLN	histology CL / GROD-like	1	1	Johan den Dunnen
00104653	19807737-?	PubMed: Reinhardt 2010, copied from Batten disease database	Siblings	-	-	Turkey	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104654	19807737-?	PubMed: Reinhardt 2010, copied from Batten disease database	Siblings	-	-	Turkey	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104655	17560505-?	PubMed: Zelnik 2007, copied from Batten disease database	3 branches of same family	-	-	Israel	-	-	-	-	-	CLN	histology fingerprint condensed /CL/ GROD-like	1	1	Johan den Dunnen
00104656	22964447-?	PubMed: Mahajnah and Zelnik 2012, copied from Batten disease database	3 branches of same family	-	-	Israel	-	-	-	-	-	CLN	histology N.D.	1	1	Johan den Dunnen
00104657	22964447-?	PubMed: Mahajnah and Zelnik 2012, copied from Batten disease database	3 branches of same family	-	-	Israel	-	-	-	-	-	CLN	histology normal	1	1	Johan den Dunnen
00104658	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	Cismondi personal communication	-	-	Mexico	-	-	-	-	-	CLN	histology fingerprint condensed	1	1	Johan den Dunnen
00104659	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	Cismondi personal communication	-	-	Argentina	-	-	-	-	-	CLN	histology fingerprint condensed	1	1	Johan den Dunnen
00104660	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	Santorelli personal communication	-	-	India	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104661	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	Santorelli personal communication	-	-	Pakistan	-	-	-	-	-	CLN	histology curvelineair/fingerprint condensed	1	1	Johan den Dunnen
00104662	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	Loughlin personal communication	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104663	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	Loughlin personal communication	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104665	patient	PubMed: Kousi 2011	-	-	-	New Zealand	-	-	-	-	-	CLN	-	2	1	Johan den Dunnen
00104666	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	New Zealand	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00104667	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	lamellar includsions	1	1	Johan den Dunnen
00104668	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	lamellar includsions	1	1	Johan den Dunnen
00104669	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104670	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104671	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104672	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Pakistan	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104673	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Pakistan	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104674	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104675	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104676	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00104677	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Turkey	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104678	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	variant 2nd allele not identified	-	-	Turkey	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104679	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	-	-	-	Albania	-	-	-	-	-	CLN	histology GRODs/CL	1	1	Johan den Dunnen
00104680	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	Ball personal communication	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00104681	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	Losekoot personal communication	-	-	-	Arabic	-	-	-	-	?	-	1	1	Johan den Dunnen
00104682	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	apparently homozygous for mutation due to de novo chr 8 deletion; Ray personal communication	-	-	Canada	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104683	21990111-?	PubMed: Kousi 2011, copied from Batten disease database	apparently homozygous for mutation due to de novo chr 8 deletion; Ray personal communication	-	-	Canada	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00104684	22220808-?	PubMed: Allen 2012, copied from Batten disease database	apparently homozygous for mutation due to de novo chr 8 deletion	-	-	Ireland	-	-	-	-	-	CLN	histology fingerprint condensed (lymphocytes), CL, RL (skin)	1	1	Johan den Dunnen
00104685	22220808-?	PubMed: Allen 2012, copied from Batten disease database	apparently homozygous for mutation due to de novo chr 8 deletion	-	-	Ireland	-	-	-	-	-	CLN	histology fingerprint condensed (lymphocytes), CL, RL (skin)	1	1	Johan den Dunnen
00104686	N.A.-?	A Dobbie, pers.comm., copied from Batten disease database	-	-	-	United Kingdom (Great Britain)	Asian	-	-	-	-	CLN	histology none	1	1	Johan den Dunnen
00104687	-?	A Dobbie, pers.comm., copied from Batten disease database	-	-	-	Italy	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00104688	-?	A Dobbie, pers.comm., copied from Batten disease database	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00104689	-?	A Dobbie, pers.comm., copied from Batten disease database	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00104690	-?	A Dobbie, pers.comm., copied from Batten disease database	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00104691	-?	A Dobbie, pers.comm., copied from Batten disease database	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00116890	S_280:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00294604	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	11	Mohammed Faruq
00305186	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00307876	?	-	-	F	?	Oman	-	-	-	-	-	CLN8	Febrile seizures, Developmental regression, Brain atrophy	1	1	Corina-Marcela Rus
00307896	?	-	-	F	no	Ukraine	-	-	-	-	-	CLN8	Ptosis, Dementia, Seizures, Ataxia, Hemiparesis, Gait disturbance, Encephalopathy, Generalized-onset seizure, Developmental regression, Aphasia, Leukodystrophy, Abnormal myelination, Neurodevelopmental abnormality	1	1	Corina-Marcela Rus
00374271	S-4672	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Seizures, regression and imbalance while walking. Brain MRI shows cerebellar atrophy	1	1	Johan den Dunnen
00374604	S-4869	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374661	S-3146	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00380774	?	PubMed: Nair 2018	-	?	-	Lebanon	-	-	-	-	-	CLN8	DD; ID; seizures; regression; cerebellar atrophy (Neurological)	1	1	LOVD
00384551	31theta	PubMed: Jilani 2019	proband 31. family theta	F	yes	-	-	-	-	-	-	CLN	-	1	1	LOVD
00384552	32theta	PubMed: Jilani 2019	sibling of proband 31. family theta	M	yes	-	-	11y	-	-	-	CLN	-	1	1	LOVD
00384553	33	PubMed: Jilani 2019	-	F	no	-	-	-	-	-	-	CLN	-	1	1	LOVD
00445034	CLN800668	PubMed: Kessel 2021	patient	-	-	Denmark	-	-	-	-	-	CTRCT	bilateral cataract, neuronal ceroid lipofuscinosis	1	1	Johan den Dunnen
00456244	Pat22	PubMed: Fernandez-Marmiesse 2014	-	M	-	Spain	-	-	-	-	-	?	see paper; ... (detailed)	1	1	Johan den Dunnen
00456248	Pat26	PubMed: Fernandez-Marmiesse 2014	-	M	-	Spain	-	-	-	-	-	?	see paper; ... (detailed)	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

CLN8 (CLN8 transmembrane ER and ERGIC protein)