All individuals with variants in gene PRRT2

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.

55 entries on 1 page. Showing entries 1 - 55.

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
00036582	-	-	-	-	-	Germany	-	-	-	-	-	?	familial hemiplegic migraine	1	1	Andreas Laner
00036583	-	-	-	-	-	Germany	-	-	-	-	-	?	familial hemiplegic migraine	1	1	Andreas Laner
00036584	-	-	-	-	-	Germany	-	-	-	-	-	?	benign early childhood partial epilepsy Watanabe	1	1	Andreas Laner
00050370	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected mother/child	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	cleft palate, micrognathia, upslanted palpebral fissure, obesity, global developmental delay	1	2	Johan den Dunnen
00050653	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay, specific learning disability, constipation, hypoplasia of dental enamel	1	1	Johan den Dunnen
00050683	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected sibling(s)	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development	1	2	Johan den Dunnen
00107914	-	PubMed: Chen 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	SIB - Livia Famiglietti
00107915	-	PubMed: Chen 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	SIB - Livia Famiglietti
00107916	-	PubMed: Chen 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	SIB - Livia Famiglietti
00107917	-	PubMed: Heron 2012	-	-	-	-	-	-	-	-	-	?	-	1	1	SIB - Livia Famiglietti
00107918	-	PubMed: Heron 2012	-	-	-	-	-	-	-	-	-	?	-	1	1	SIB - Livia Famiglietti
00107919	-	PubMed: Chen 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	SIB - Livia Famiglietti
00107920	-	PubMed: Chen 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	SIB - Livia Famiglietti
00107921	-	PubMed: Brain. 2011	-	-	-	-	-	-	-	-	-	DYT10	-	1	1	SIB - Livia Famiglietti
00107922	-	PubMed: Li 2012	-	-	-	-	-	-	-	-	-	DYT10	-	1	1	SIB - Livia Famiglietti
00107923	-	PubMed: Li 2012	-	-	-	-	-	-	-	-	-	DYT10	-	1	1	SIB - Livia Famiglietti
00107924	-	PubMed: Li 2012	-	-	-	-	-	-	-	-	-	DYT10	-	1	1	SIB - Livia Famiglietti
00107925	-	PubMed: Li 2012	-	-	-	-	-	-	-	-	-	DYT10	-	1	1	SIB - Livia Famiglietti
00107926	-	PubMed: Heron 2012	-	-	-	-	-	-	-	-	-	ICCA	-	1	1	SIB - Livia Famiglietti
00107927	-	PubMed: Schubert 2012	-	-	-	-	-	-	-	-	-	BFIS2	-	4	1	Yvonne Weber
00151965	-	-	-	F	?	Netherlands	White	-	-	-	-	BFIS2	-	1	1	Danique Vlaskamp
00153034	-	-	-	M	-	Netherlands	white	-	-	-	-	BFIS2	-	1	1	Danique Vlaskamp
00153062	-	-	-	F	-	Netherlands	white	-	-	-	-	?	unclassified epilepsy, paroxysmal kinesigenic dyskinesia	1	1	Danique Vlaskamp
00153085	-	-	-	M	-	Netherlands	white	-	-	-	-	?	-	1	1	Danique Vlaskamp
00153086	-	-	-	F	-	Netherlands	white	-	-	-	-	BFIS2	-	1	1	Danique Vlaskamp
00153280	-	-	-	F	-	Netherlands	white	-	-	-	-	ICCA	-	1	1	Danique Vlaskamp
00153281	-	-	-	F	-	Netherlands	white	-	-	-	-	?	-	1	1	Danique Vlaskamp
00153283	-	-	-	F	-	Netherlands	white	-	-	-	-	ICCA	-	1	1	Danique Vlaskamp
00153284	-	-	-	M	-	Netherlands	white	-	-	-	-	?	-	1	1	Danique Vlaskamp
00153285	-	-	-	F	-	Netherlands	white	-	-	-	-	BFIS2	-	1	1	Danique Vlaskamp
00153286	-	-	-	M	-	Netherlands	white	-	-	-	-	?	-	1	1	Danique Vlaskamp
00153287	-	-	-	F	-	Netherlands	white	-	-	-	-	?	-	1	1	Danique Vlaskamp
00207573	-	-	-	M	-	China	White	02y	-	yes	carbamazepine	ICCA	HP:0001332, HP:0002305, HP:0001250, HP:0002076, HP:0002356, HP:0100660, HP:0002072, HP:0004305, HP:0011157	4	1	Zhu Jin Ling
00207574	-	-	-	M	?	China	White	00y04m	-	yes	-	ICCA	HP:0001332 HP:0002305 HP:0001250 HP:0002356 HP:0100660 HP:0002072 HP:0004305 HP:0011157 HP:0002076	1	2	Zhu Jin Ling
00207717	-	-	-	F	-	China	-	00y04m	-	-	-	ICCA	-	1	1	Zhu Jin Ling
00208756	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0002069 (Generalized tonic-clonic seizures); HP:0002121 (Absence seizures)	1	1	Andreas Laner
00210175	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0012638 (Abnormality of nervous system physiology); HP:0001250 (Seizures)	1	1	Andreas Laner
00245895	-	-	-	M	-	-	-	-	-	-	-	-	HP:0012638 (Abnormality of nervous system physiology); HP:0002197 (Generalized seizures)	1	1	Andreas Laner
00248141	-	-	-	M	-	-	-	-	-	-	-	-	HP:0002069 (Generalized tonic-clonic seizures); HP:0012638 (Abnormality of nervous system physiology)	1	1	Andreas Laner
00266171	-	-	-	M	-	-	-	-	-	-	-	-	Paroxysmal dyskinesia (HP:0007166)	1	1	Andreas Laner
00289296	-	-	-	F	-	-	-	-	-	-	-	?	Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638); Macrocephaly (HP:0000256); Abnormality of the skull (HP:0000929)	1	1	Andreas Laner
00291439	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295476	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00296384	-	-	-	F	-	-	-	-	-	-	-	?	Generalized seizures (HP:0002197)	1	1	Andreas Laner
00296548	-	-	-	F	-	-	-	-	-	-	-	?	Choreoathetosis (HP:0001266); Involuntary movements (HP:0004305)	1	1	Andreas Laner
00296666	-	-	-	M	-	-	-	-	-	-	-	?	Infantile spasms (HP:0012469); Seizures (HP:0001250)	1	1	Andreas Laner
00307811	UK10K_FINDWGA5410887	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00320243	172237	-	-	F	-	-	-	-	-	-	-	BFIS2	benign infantile convulsions, with 4 months series of epileptic seizures, child normally developed, interectal EEG normal, family history: mother as an infant also seizures, as an adult isolated seizures	1	1	Andreas Laner
00331292	175351	-	-	M	?	Germany	-	-	-	-	-	ICCA	(+) Paroxysmal dyskinesia,(+) Dyskinesia	1	1	Andreas Laner
00374818	S-1403	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00387700	M003	PubMed: Hu 2019	family, 2 affected individuals, first cousin parents once removed	-	yes	-	Kurd	-	-	-	-	ID	syndromic intellectual disability, no microcephaly, epilepsy	1	2	Johan den Dunnen
00390025	3	PubMed: Ruberto 2020	-	?	-	Italy	-	-	-	-	-	retinal disease	Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula	1	1	LOVD
00408693	Pat37	PubMed: Thomas 2022	no family history	-	no	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00414251	202498	-	-	M	-	Germany	-	-	-	-	-	DYT10	Dystonia	1	1	Andreas Laner
00462180	-	-	-	F	-	- (not applicable)	white	-	-	-	-	seizures	HP:0001250	1	1	Marketa Wayhelova

Legend

How to query

Global Variome shared LOVD

PRRT2 (proline-rich transmembrane protein 2)