All individuals with variants in gene THAP1

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.

69 entries on 1 page. Showing entries 1 - 69.

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
00300288	-	-	-	M	-	-	-	-	-	-	-	?	Dystonia (HP:0001332)	1	1	IMGAG
00300289	-	-	-	F	-	-	-	-	-	-	-	?	Healthy (HP:0032322)	1	1	IMGAG
00300290	-	-	-	M	-	-	-	-	-	-	-	?	Dystonia (HP:0001332)	1	1	IMGAG
00324167	173221	-	-	F	-	-	-	-	-	-	-	DYT	(+) Dystonia,(+) Abnormality of extrapyramidal motor function , clinical suspicion of Segawa-syndrome	1	1	Andreas Laner
00386303	FamSPat416	PubMed: Fuchs 2009	3-generation family, 4 affected (2F, 2M)	F	-	Germany;United States	-	-	-	-	-	DYT	dystonia sites involve lower face, neck, larynx, tongue, jaw, right arm, left arm, right leg, left leg, trunk	1	4	Johan den Dunnen
00386304	FamSPat413	PubMed: Fuchs 2009	-	M	-	United States;Germany	-	-	-	-	-	DYT	dystonia sites involve upper face, lower face, neck, tongue, jaw, right arm, left arm, left leg, trunk	1	1	Johan den Dunnen
00386305	FamSPat411	PubMed: Fuchs 2009	-	M	-	United States;Germany	-	-	-	-	-	DYT	dystonia sites involve lower face, jaw	1	1	Johan den Dunnen
00386306	FamSPat302	PubMed: Fuchs 2009	-	F	-	United States;Germany	-	-	-	-	-	DYT	dystonia sites involve upper face, lower face, neck, tongue, jaw, right arm, left arm, right leg, left leg, trunk	1	1	Johan den Dunnen
00386307	FamWPat303	PubMed: Fuchs 2009	4-generation family, 2 affected (2M), 1 asymptomatic	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve lower face, larynx, pharynx, tongue, jaw, right arm, left arm	1	2	Johan den Dunnen
00386308	FamWPat502	PubMed: Fuchs 2009	-	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve right arm, left arm	1	1	Johan den Dunnen
00386309	FamMPat524	PubMed: Fuchs 2009	family, 14 affected	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve larynx	1	14	Johan den Dunnen
00386310	FamMPat212	PubMed: Fuchs 2009	-	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve neck, larynx, tongue, right arm, left arm, right leg, left leg, trunk	1	1	Johan den Dunnen
00386311	FamMPat309	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve upper face, lower face, larynx, jaw, right arm, right leg	1	1	Johan den Dunnen
00386312	FamMPat319	PubMed: Fuchs 2009	-	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve upper face, neck, larynx, right arm, left arm, right leg, left leg, trunk	1	1	Johan den Dunnen
00386313	FamMPat334	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve upper face, lower face, neck, left arm, right leg, left leg, trunk	1	1	Johan den Dunnen
00386314	FamMPat342	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve upper face, lower face, larynx, left arm, left leg	1	1	Johan den Dunnen
00386315	FamMPat404	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve neck, larynx, right arm, left arm, right leg, left leg	1	1	Johan den Dunnen
00386316	FamMPat417	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve right arm, left leg	1	1	Johan den Dunnen
00386317	FamMPat481	PubMed: Fuchs 2009	-	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve right arm	1	1	Johan den Dunnen
00386318	FamMPat486	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve right arm, left arm	1	1	Johan den Dunnen
00386319	FamMPat514	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve neck, right arm	1	1	Johan den Dunnen
00386320	FamMPat516	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve neck, pharynx, tongue, right arm, left arm, right leg	1	1	Johan den Dunnen
00386321	FamMPat517	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve right arm, left arm, right leg, left leg	1	1	Johan den Dunnen
00386322	FamMPat522	PubMed: Fuchs 2009	-	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve upper face, lower face, neck, larynx, pharynx, tongue, jaw, right arm	1	1	Johan den Dunnen
00386323	FamCPat417	PubMed: Fuchs 2009	family, 6 affected	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve neck, larynx, right arm, left arm	1	6	Johan den Dunnen
00386324	FamCPat419	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve lower face, neck, tongue, jaw, right arm, right leg, trunk	1	1	Johan den Dunnen
00386325	FamCPat470	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve upper face, lower face, tongue	1	1	Johan den Dunnen
00386326	FamCPat498	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve lower face, neck, tongue, jaw, right arm	1	1	Johan den Dunnen
00386327	FamCPat512	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve neck, right arm	1	1	Johan den Dunnen
00386328	FamCPat526	PubMed: Fuchs 2009	-	F	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve upper face, neck, larynx	1	1	Johan den Dunnen
00386329	FamRPat309	PubMed: Fuchs 2009	family, 2 affected	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve upper face, lower face, neck, right arm, left arm, right leg, left leg	1	2	Johan den Dunnen
00386330	FamRPat401	PubMed: Fuchs 2009	-	M	-	United States	Amish-Mennonite	-	-	-	-	DYT	dystonia sites involve lower face, neck, tongue, right arm, left arm, right leg, trunk	1	1	Johan den Dunnen
00386332	Fam1	PubMed: Bressman 2009	3-generation family, 6 affected	-	-	-	Europe	-	-	-	-	DYT	-	1	6	Johan den Dunnen
00386333	Fam2	PubMed: Bressman 2009	2-generation family, 2 affected	-	-	-	Europe	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00386334	Fam3	PubMed: Bressman 2009	2-generation family, 2 affected	-	-	-	Europe	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00386335	Fam4	PubMed: Bressman 2009	2-generation family, 3 affected	-	-	-	Europe	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00386336	Fam5	PubMed: Bressman 2009	3-generation family, 3 affected, 1 asymptomatic carrier	-	-	-	Europe	-	-	-	-	DYT	-	1	3	Johan den Dunnen
00386337	Fam6	PubMed: Bressman 2009	4-generation family, 4 affected	-	-	-	Europe	-	-	-	-	DYT	-	1	4	Johan den Dunnen
00386338	Fam7	PubMed: Bressman 2009	3-generation family, 2 affected, 1 asymptomatic carrier	-	-	-	Europe	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00386339	Fam8	PubMed: Bressman 2009	2-generation family, 1 affected	-	-	-	Europe	-	-	-	-	DYT	-	1	1	Johan den Dunnen
00386340	Fam9	PubMed: Bressman 2009	2-generation family, 2 affected	-	-	-	Europe	-	-	-	-	DYT	-	1	2	Johan den Dunnen
00386341	Fam1PatL2257	PubMed: Djarmati 2009	4-generation family, 1 affected (M), 2 unaffected carriers (2F)	M	-	Germany	-	-	-	-	-	DYT	see paper; ..., childhood laryngeal dystonia developed generalised dystonia, orobulbar involvement; two unaffected carriers with subtle motor signs	1	1	Johan den Dunnen
00386342	Pat1(7021)	PubMed: Djarmati 2009	-	M	-	Germany	-	-	-	-	-	DYT	see paper; ..., childhood laryngeal dystonia developed generalised dystonia, orobulbar involvement	1	1	Johan den Dunnen
00386343	patients	PubMed: Djarmati 2009	-	-	-	Germany	-	-	-	-	-	DYT	-	1	20	Johan den Dunnen
00386344	controls	PubMed: Djarmati 2009	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	7	Johan den Dunnen
00386345	FamA	PubMed: Xiao 2010	3-generation family, 3 affected (2F, M), 1 unaffected carriers (F)	F;M	-	United States	-	-	-	-	-	DYT	see paper; ...; dystonia cervical, masticatory, arm	1	3	Johan den Dunnen
00386346	FamB	PubMed: Xiao 2010	4-generation family, 3 affected (F, 2M)	F;M	-	United States	-	-	-	-	-	DYT	see paper; ..., slowly progressive left leg and truncal dystonia	1	3	Johan den Dunnen
00386347	FamC	PubMed: Xiao 2010	4-generation family, 3 affected (F, 2M)	F;M	-	United States	-	-	-	-	-	DYT	see paper; ..., cervical dystonia	1	3	Johan den Dunnen
00386348	PatD-1378	PubMed: Xiao 2010	patient	F	-	United States	-	-	-	-	-	DYT	see paper; ..., cervical dystonia	1	1	Johan den Dunnen
00386349	PatE-6144	PubMed: Xiao 2010	patient	F	-	United States	-	-	-	-	-	DYT	see paper; ..., laryngeal dystonia (adductor subtype)	1	1	Johan den Dunnen
00386350	PatF-6224	PubMed: Xiao 2010	patient	F	-	United States	-	-	-	-	-	DYT	see paper; ..., adductor laryngeal dystonia	1	1	Johan den Dunnen
00386351	patient	PubMed: Xiao 2010	-	F	-	United States	white	-	-	-	-	DYT	see paper; ..., blepharospasm	1	1	Johan den Dunnen
00386352	patient	PubMed: Xiao 2010	-	F	-	United States	white	-	-	-	-	DYT	see paper; ..., laryngeal dystonia	1	1	Johan den Dunnen
00386353	patient	PubMed: Xiao 2010	-	-	-	United States	white	-	-	-	-	DYT	see paper; ..., segmental craniocervical dystonia, laryngeal dystonia (adductor subtype), blepharospasm, lower facial dystonia	1	1	Johan den Dunnen
00386354	patients	PubMed: Xiao 2010	-	-	-	United States	-	-	-	-	-	DYT	see paper; ..., segmental craniocervical dystonia	1	7	Johan den Dunnen
00386355	controls	PubMed: Xiao 2010	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00386356	PatL3641	PubMed: Lohmann 2012	family	F	-	Germany	-	-	-	-	-	DYT	see paper; ..., focal dystonia, speech not affected	1	1	Johan den Dunnen
00386357	PatL3841	PubMed: Lohmann 2012	no family history	F	-	Germany	-	-	-	-	-	DYT	see paper; ..., generalized dystonia, speech affected mildly	1	1	Johan den Dunnen
00386358	PatL3969	PubMed: Lohmann 2012	no family history	M	-	Germany	-	-	-	-	-	DYT	see paper; ..., generalized dystonia, speech affected	1	1	Johan den Dunnen
00386359	PatL4071	PubMed: Lohmann 2012	no family history	F	-	Germany	-	-	-	-	-	DYT	see paper; ..., generalized dystonia, speech affected	1	1	Johan den Dunnen
00386360	PatL4155	PubMed: Lohmann 2012	family	M	-	Germany	-	-	-	-	-	DYT	see paper; ..., segmental dystonia, speech not affected	1	1	Johan den Dunnen
00386361	PatL4318	PubMed: Lohmann 2012	family	M	-	Germany	-	-	-	-	-	DYT	see paper; ..., segmental dystonia, speech affected	1	1	Johan den Dunnen
00386362	PatL4325	PubMed: Lohmann 2012	no family history	M	-	Germany	-	-	-	-	-	DYT	see paper; ..., focal dystonia (musicians' dystonia), speech not affected	1	1	Johan den Dunnen
00386363	PatL4455	PubMed: Lohmann 2012	no family history	M	-	Germany	-	-	-	-	-	DYT	see paper; ..., generalized dystonia , speech affected, aphonia	2	1	Johan den Dunnen
00386364	PatL4457	PubMed: Lohmann 2012	no family history	M	-	Germany	-	-	-	-	-	DYT	see paper; ..., focal dystonia, speech not affected	1	1	Johan den Dunnen
00386365	patients	PubMed: Lohmann 2012	-	-	-	Germany	-	-	-	-	-	DYT	-	1	17	Johan den Dunnen
00386366	patients	PubMed: Lohmann 2012	-	-	-	Serbia	-	-	-	-	-	DYT	-	1	6	Johan den Dunnen
00386367	controls	PubMed: Lohmann 2012	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	19	Johan den Dunnen
00427818	PatJ	PubMed: Veeramah 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	EE	gestational diabetes (diet-treated); born 37w; severe failure to thrive; complex partial seizures, giggling with decreased awareness, eye deviation, complex partial seizures, now partly controlled (brief/infrequent, every few weeks, on valproate & zonisamide); EEG diffuse slowing, multifocal spikes bifrontal/L occipital, clinical seiures originating from L frontal region; acquired microcephaly (<2nd percenile); motor regression, progressing to spastic quadriparesis; choreoathetosis, dystonic posturing; severe intellectual disability, nonverbal; short stature	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

THAP1 (THAP domain containing, apoptosis associated...)