All individuals with variants in gene GLE1

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.

53 entries on 1 page. Showing entries 1 - 53.

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
00016592	Fam1	PubMed: Ellard 2015, Journal: Ellard 2015	couple, 2 affected fetuses, both terminated at 15-20 weeks gestation	-	no	United Kingdom (Great Britain)	white European	00y00m00d	-	-	-	LCCS1	fetal akinesia syndrome (pterygia and joint contractures)	2	2	Hana Lango-Allen
00038399	-	PubMed: Kaneb 2015	-	?	?	-	-	63y	-	-	-	ALS	assumed dominant effect, diagnosed limb onset ALS, 63y-deceased	1	1	Anne Polvi
00038400	FamALS-34	PubMed: Kaneb 2015	3-generation family, 2 affected sisters (deceased 53y and 66y)	F	no	Canada	-	-	-	-	-	ALS	-	1	2	Anne Polvi
00038401	-	PubMed: Kaneb 2015	-	-	-	(Canada)	white	-	-	-	-	ALS	Assumed dominant effect	1	1	Anne Polvi
00095112	-	-	-	-	?	-	-	-	-	Yes	-	LCCS1	-	2	1	Karen Stals
00294747	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00300328	-	-	-	-	-	-	-	-	-	-	-	CAAHD	-	2	1	Thabo Yates
00300329	-	-	-	-	-	-	-	-	-	-	-	CAAHD	-	2	1	Thabo Yates
00300332	-	-	-	-	-	Afghanistan	-	-	-	-	-	CAAHD	-	1	1	Thabo Yates
00306855	Fam1	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306856	Fam2	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306857	Fam3	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306858	Fam4	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306859	Fam5	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306860	Fam6	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306861	Fam7	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306862	Fam8	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306863	Fam9	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306864	Fam10	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306865	Fam11	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306866	Fam12	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306867	Fam13	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306868	Fam14	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306869	Fam15	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306870	Fam16	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306871	Fam17	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306872	Fam18	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306873	Fam19	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306874	Fam20	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306875	Fam21	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306876	Fam22	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306877	Fam23	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306878	Fam24	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306879	Fam25	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306880	Fam26	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306881	Fam27	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306882	Fam28	PubMed: Nousiainen 2008	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	1	1	Johan den Dunnen
00306883	Fam29	PubMed: Johannesen 2020	family	-	-	Finland	-	<0d	-	-	-	LCCS1	-	2	1	Johan den Dunnen
00306884	Fam30	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306885	Fam31	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306886	Fam32	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306887	Fam33	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306888	Fam34	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306889	Fam35	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306890	Fam36	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306891	Fam37	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306892	Fam38	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	-	2	1	Johan den Dunnen
00306893	Fam39	PubMed: Nousiainen 2008	family	-	-	Finland	-	-	-	-	-	CAAHD	distinct congenital arthrogryposis, prolonged survival after birth; autopsy revealed typical neurogenic muscle atrophy, loss of anterior horn cells spinal cord	2	1	Johan den Dunnen
00306894	Pat1	PubMed: Said 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Malta	Europe;Malta	-	-	-	-	CAAHD	see paper; ...	1	1	Johan den Dunnen
00306895	Pat2	PubMed: Said 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	(Germany)	Europe	04y	-	-	-	CAAHD	see paper; ..., 4y-deceased	2	1	Johan den Dunnen
00306896	Fam	PubMed: Paakkola 2018	6-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	yes	Finland	-	-	-	-	-	CAAHD	see paper; ...	1	2	Johan den Dunnen
00306897	FamPat1/2	PubMed: Smith 2017	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	no	Canada	white	-	-	-	-	CAAHD	see paper; ...	2	2	Johan den Dunnen
00308035	Pat14	PubMed: Mahler 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	no	Germany	-	-	-	-	-	?	severe global developmental delay, severe encephalopathy, dystonia	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

GLE1 (GLE1 RNA export mediator homolog (yeast))