All individuals with variants in gene PPT1

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.

337 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000072	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000076	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00036578	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036579	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00113559	9425237-?	PubMed: Mitchison 1998, Batten disease database	Siblings	-	-	England	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113560	9425237-?	PubMed: Mitchison 1998, Batten disease database	Siblings	-	-	England	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113561	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	England	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113562	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	England	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113563	9425237-?	PubMed: Mitchison 1998, Batten disease database	Siblings	-	-	Canada	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113564	9425237-?	PubMed: Mitchison 1998, Batten disease database	Siblings	-	-	Canada	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113565	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Canada	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113566	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Canada	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113567	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Canada	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113568	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Canada	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113569	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113570	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113571	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Belgium	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113572	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Belgium	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113573	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113574	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113575	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113576	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113577	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113578	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113579	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113580	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113581	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113582	9425237-?	PubMed: Mitchison 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113583	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Swedish; Norwegian	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113584	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Swedish; Norwegian	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113585	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Penn Dutch Alsatian	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113586	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Penn Dutch Alsatian	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113587	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Scottish; Irish; English; German; Swedish	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113588	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Scottish; Irish; English; German; Swedish	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113589	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Swedish; Norwegian	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113590	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Swedish; Norwegian	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113591	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Irish; Welsh; English; German; Norwegian	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113592	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Irish; Welsh; English; German; Norwegian	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113593	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Welsh; English; German; Dutch	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113594	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Welsh; English; German; Dutch	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113595	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Irish; English; Swedish	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113596	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Irish; English; Swedish	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113597	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Norwegian; Canadian; Cherokee	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113598	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Norwegian; Canadian; Cherokee	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113599	9664077-?	PubMed: Das 1998, Batten disease database	LINCL because had GROD inclusions	-	-	United States; Canada	German; Irish	-	-	-	-	CLN	histology granular osmiophilic deposits / curvilinear	1	1	Johan den Dunnen
00113600	9664077-?	PubMed: Das 1998, Batten disease database	LINCL because had GROD inclusions	-	-	United States; Canada	German; Irish	-	-	-	-	CLN	histology granular osmiophilic deposits / curvilinear	1	1	Johan den Dunnen
00113601	9664077-?	PubMed: Das 1998, Batten disease database	2nd allele not found despite excessive investigation across PPT1_LINCL despite age at onset because had a sib that presented at 24mo	-	-	United States; Canada	Arabic; Moroccan	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113602	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Scottish; German; Irish	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113603	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Scottish; German; Irish	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113604	9664077-?	PubMed: Das 1998, Batten disease database	LINCL because had seizures as presenting symptom	-	-	United States; Canada	English	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113605	9664077-?	PubMed: Das 1998, Batten disease database	LINCL because had seizures as presenting symptom	-	-	United States; Canada	English	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113606	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	German; Native American	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113607	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	German; Native American	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113608	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	German	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113609	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	German	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113610	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	French Canadian; Irish	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear / fingerprint, condensed	1	1	Johan den Dunnen
00113611	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	French Canadian; Irish	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear / fingerprint, condensed	1	1	Johan den Dunnen
00113612	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Norwegian; German; Irish; English	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear	1	1	Johan den Dunnen
00113613	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Norwegian; German; Irish; English	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear	1	1	Johan den Dunnen
00113614	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Scottish; Irish; English; French; French Canadian	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113615	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Scottish; Irish; English; French; French Canadian	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113616	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Scottish; Irish; German; Hungarian	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear / fingerprint, condensed	1	1	Johan den Dunnen
00113617	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	Scottish; Irish; German; Hungarian	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear / fingerprint, condensed	1	1	Johan den Dunnen
00113618	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	German; Irish	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear / fingerprint, condensed	1	1	Johan den Dunnen
00113619	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	German; Irish	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear / fingerprint, condensed	1	1	Johan den Dunnen
00113620	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	-	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear / fingerprint, condensed	1	1	Johan den Dunnen
00113621	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	-	-	-	-	-	CLN	granular osmiophilic deposits / curvilinear / fingerprint, condensed	1	1	Johan den Dunnen
00113622	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	English; Hispanic	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113623	9664077-?	PubMed: Das 1998, Batten disease database	-	-	-	United States; Canada	English; Hispanic	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113624	9733046-?	PubMed: Munroe 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00113625	9733046-?	PubMed: Munroe 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00113626	9733046-?	PubMed: Munroe 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00113627	9733046-?	PubMed: Munroe 1998, Batten disease database	-	-	-	Scotland	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00113628	10679943-?	PubMed: Salonen 2000, Batten disease database	-	-	-	England	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113629	10679943-?	PubMed: Salonen 2000, Batten disease database	-	-	-	England	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113630	10679943-?	PubMed: Salonen 2000, Batten disease database	2nd allele not found by sequencing	-	-	France	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113631	10679943-?	PubMed: Salonen 2000, Batten disease database	-	-	-	-	English; Irish; German	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113632	10679943-?	PubMed: Salonen 2000, Batten disease database	-	-	-	-	English; Irish; German	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113633	10679943-?	PubMed: Salonen 2000, Batten disease database	2nd allele not found by sequencing	-	-	Japan	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00113634	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113635	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113636	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113637	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113638	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113639	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113640	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113641	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113642	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113643	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113644	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113645	10649502-?	PubMed: Waliany 2000, Batten disease database	-	-	-	United States	-	-	-	-	-	CLN	granular osmiophilic deposits	1	1	Johan den Dunnen
00113646	11506414-?	PubMed: van Diggelen 2001, Batten disease database	-	-	-	France	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113647	11506414-?	PubMed: van Diggelen 2001, Batten disease database	-	-	-	France	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113648	11506414-?	PubMed: van Diggelen 2001, Batten disease database	-	-	-	-	-	-	-	-	-	CLN	histology sister has granular osmiophilic deposits	1	1	Johan den Dunnen
00113649	11506414-?	PubMed: van Diggelen 2001, Batten disease database	-	-	-	-	-	-	-	-	-	CLN	histology sister has granular osmiophilic deposits	1	1	Johan den Dunnen
00113650	17044973-?	PubMed: Bi 2006, Batten disease database	-	-	-	China	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00113651	17044973-?	PubMed: Bi 2006, Batten disease database	-	-	-	China	-	-	-	-	-	CLN	-	1	1	Johan den Dunnen
00113652	17261688-?	PubMed: Ramadan 2007, Batten disease database	p.Cys45Tyr shows residual activity thought to be responsible for the late-onset	-	-	England	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113653	17261688-?	PubMed: Ramadan 2007, Batten disease database	p.Cys45Tyr shows residual activity thought to be responsible for the late-onset	-	-	England	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen
00113654	17261688-?	PubMed: Ramadan et al., 2007, Batten disease database	p.Cys45Tyr shows residual activity thought to be responsible for the late-onset	-	-	England	-	-	-	-	-	CLN	histology granular osmiophilic deposits	1	1	Johan den Dunnen

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Global Variome shared LOVD

PPT1 (palmitoyl-protein thioesterase 1)