All individuals with variants in gene RNU2-2

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.

201 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00454914	PatG1	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454915	PatG2	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454916	PatG3	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier mother	F	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454917	PatG4	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454918	PatG5	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454919	PatG6	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454920	PatG7	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454921	PatG8	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier mother	F	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454922	PatG9	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 2 affected brothers, unaffected non carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	2	Johan den Dunnen
00454923	PatM1	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454924	PatM2	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454925	PatN1	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454926	PatS1	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454927	PatS2	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier mother	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00454928	PatS3	PubMed: Greene 2025, Journal: Greene 2024	2-generation family, 1 affected, unaffected non carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ..., severe/complex seizure phenotype	1	1	Johan den Dunnen
00467064	PatI1	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467065	PatI2	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467066	PatI3	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467067	PatI4	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467068	PatI5	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467069	PatI6	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467070	PatR1	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Netherlands	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467071	PatW1	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Netherlands	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467072	PatY1	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Iceland	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467073	PatZ1	PubMed: Greene 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467083	2-Pat1	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United Kingdom (Great Britain)	white	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467084	2-Pat2	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United Kingdom (Great Britain)	white	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467085	2-Pat3	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Australia	jew-Ashkenazi	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467086	2-Pat4	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Korea	Asia	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467087	2-Pat5	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Korea	Asia	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467088	2-Pat6	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Korea	Asia	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467089	2-Pat7	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	M	-	Korea	Asia	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467090	2-Pat8	PubMed: Jackson 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467091	2-Pat9	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467092	2-Pat10	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467093	2-Pat11	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467094	2-Pat12	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467095	2-Pat13	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467096	2-Pat14	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	-	Europe	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467097	2-Pat15	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467098	2-Pat16	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467099	2-Pat17	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467100	2-Pat18	PubMed: Jackson 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467101	2-Pat19	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467102	2-Pat20	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467103	2-Pat21	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467104	2-Pat22	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467105	2-Pat23	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467106	2-Pat24	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467107	2-Pat25	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467108	2-Pat26	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467109	2-Pat27	PubMed: Jackson 2025	2-generation family, 1 affected, unaffected parents	-	-	-	Europe	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467110	FamA	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467111	FamB	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	no	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467112	FamC	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467113	FamD	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467114	FamE	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	2	Johan den Dunnen
00467115	FamF	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467116	FamG	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467117	FamH	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467118	FamI	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	3	1	Johan den Dunnen
00467119	FamJ	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467120	FamK	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents	F;M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	3	Johan den Dunnen
00467121	FamL	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467122	FamM	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 3 affected brothers, unaffected heterozygous carrier parents	F;M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	3	Johan den Dunnen
00467123	FamN	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, affected brother/sister, unaffected parents	F;M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	2	Johan den Dunnen
00467124	FamO	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467125	FamP	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467126	FamQ	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467127	FamR	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	1	1	Johan den Dunnen
00467128	FamU	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	NDD	see paper; ..., seizures, bilateral tonic-clonic seizure, bilateral tonic-clonic seizure with generalized onset; EEG generalized slow activity; Babinski sign; autism; abnormal repetitive mannerisms; bruxism; recurrent hand flapping; hand clenching; stereotypical body rocking; no speech; global developmental delay; inability to walk; abnormal cerebral white matter morphology; failure to thrive; breathing dysregulation; hyperventilation; generalized hypotonia	2	1	Johan den Dunnen
00467129	FamV	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	NDD	see paper; ..., microcephaly; seizures, bilateral tonic-clonic seizure; spasticity; spastic tetraparesis; no speech; global developmental delay; dystonia; inability to walk; hyperreflexia; abnormal cerebral white matter morphology; small basal ganglia; cerebral white matter agenesis; feeding difficulties; scoliosis; hypertonia; generalized hypotonia	2	1	Johan den Dunnen
00467130	FamW	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	NDD	see paper; ..., microcephaly; encephalopathy; seizures; sleep abnormality; inappropriate laughter; abnormal repetitive mannerisms; no speech; global developmental delay; dystonia; hypoglycorrhachia; decreased lacrimation; decreased sweating due to autonomic dysfunction; constipation	2	1	Johan den Dunnen
00467131	FamXPat1	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	NDD	see paper; ..., encephalopathy; seizures, myoclonic seizure; choreoathetosis; inappropriate laughter; agitation; abnormal repetitive mannerisms; no speech; global developmental delay; delayed gross motor development; inability to walk; hyperreflexia; cerebral cortical atrophy; cerebellar cortical atrophy; abnormal cerebral white matter morphology; failure to thrive; constipation; feeding difficulties; hypertonia	2	2	Johan den Dunnen
00467132	FamYPat1	PubMed: Greene 2025, Journal: Greene 2025	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	-	-	-	-	-	-	-	NDD	see paper; ..., plagiocephaly; seizures, focal-onset seizure; spasticity; autism; abnormal repetitive mannerisms; stereotypical hand wringing; no speech; global developmental delay; delayed gross motor development; dystonia; broad-based gait; inability to walk; failure to thrive; hypertonia	2	2	Johan den Dunnen
00467133	FamA2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467134	FamB2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467135	FamC2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467136	FamD2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467137	FamE2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467138	FamF2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467139	FamG2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467140	FamH2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467141	FamI2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467142	FamJ2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467143	FamK2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467144	FamL2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467145	FamM2	PubMed: Greene 2025, Journal: Greene 2025	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	NDD	see paper; ...	2	1	Johan den Dunnen
00467146	FamXPat2	PubMed: Greene 2025, Journal: Greene 2025	sister	F	-	-	-	-	-	-	-	NDD	see paper; ..., encephalopathy; seizures, myoclonic seizure; inappropriate laughter; agitation; abnormal repetitive mannerisms; stereotypical hand wringing; no speech; global developmental delay; delayed gross motor development; inability to walk; hyperreflexia; hypoplasia corpus callosum; cerebral cortical atrophy; cerebellar cortical atrophy; abnormal cerebral white matter morphology; failure to thrive; constipation; hypertonia	2	1	Johan den Dunnen
00467147	FamYPat2	PubMed: Greene 2025, Journal: Greene 2025	sister	F	-	-	-	-	-	-	-	NDD	see paper; ..., spasticity; agitation; dystonia; broad-based gait; inability to walk; hypertonia	2	1	Johan den Dunnen
00467152	PatSupTab2-1	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467153	PatSupTab2-2	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467154	PatSupTab2-3	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467155	PatSupTab2-4	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467156	PatSupTab2-5	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467157	PatSupTab2-6	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467158	PatSupTab2-7	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467159	PatSupTab2-8	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467160	PatSupTab2-9	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00467161	PatSupTab2-10	PubMed: Leitao 2025, Journal: Leitao 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	France	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

RNU2-2 (RNA, U2 small nuclear 2)