All individuals with variants in gene GCNT2

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.

44 entries on 1 page. Showing entries 1 - 44.

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
00003037	-	PubMed: Yu 2003	-	?	-	-	white	-	-	-	-	Ii	blood group i	1	1	Johan den Dunnen
00003038	-	PubMed: Yu 2003	-	?	-	-	white	-	-	-	-	Ii	blood group i	1	1	Johan den Dunnen
00003039	-	PubMed: Yu 2003	-	?	-	-	white	-	-	-	-	Ii	blood group i	1	1	Johan den Dunnen
00003040	-	PubMed: Yu 2003	-	?	-	-	white	-	-	-	-	Ii	blood group i	1	1	Johan den Dunnen
00003041	-	PubMed: Yu 2003	-	?	-	-	white	-	-	-	-	Ii	blood group i	1	1	Johan den Dunnen
00003042	-	PubMed: Yu 2003	-	?	-	-	white	-	-	-	-	Ii	blood group i	2	1	Johan den Dunnen
00003043	-	PubMed: Yu 2001	2-generation family, 2 affecteds	F	no	Taiwan	-	-	-	-	-	CTRCT13, Ii	blood group i, cataract, congenital	2	1	Johan den Dunnen
00003044	-	PubMed: Yu 2001	2-generation family, 2 affecteds	F	no	Taiwan	-	-	-	-	-	CTRCT13, Ii	blood group i, cataract, congenital	2	1	Johan den Dunnen
00003045	-	PubMed: Yu 2001	3-generation family, 2 affecteds	F	no	Taiwan	-	-	-	-	-	CTRCT13, Ii	blood group i, cataract, congenital	1	1	Johan den Dunnen
00003046	-	PubMed: Yu 2001	3-generation family, 2 affecteds	M	no	Taiwan	-	-	-	-	-	CTRCT13, Ii	blood group i, cataract, congenital	1	1	Johan den Dunnen
00003047	-	PubMed: Yu 2001	3-generation family, 1 affected	F	yes	Taiwan	-	-	-	-	-	CTRCT13, Ii	blood group i, cataract, congenital	1	1	Johan den Dunnen
00003048	-	PubMed: Yu 2003	-	?	-	-	white	-	-	-	-	Healthy/Control	-	1	51	Johan den Dunnen
00003049	-	PubMed: Yu 2001	3-generation family, 5 unaffected carriers	?	no	Taiwan	-	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00003050	-	PubMed: Yu 2001	1-generation family, unaffected carrier (father)	M	no	Taiwan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00003051	-	PubMed: Yu 2001	2-generation family, 2 unaffected carriers (mother, sister)	F	no	Taiwan	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00003052	-	PubMed: Yu 2001	3-generation family, unaffected carrier parents	-	yes	Taiwan	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00003054	-	PubMed: Inaba 2003	3-generation family, 3 affecteds, unaffected carrier parents and children	-	no	Japan	-	-	-	-	-	CTRCT13, Ii	-	3	3	Johan den Dunnen
00003055	-	PubMed: Inaba 2003	controls	-	-	Japan	-	-	-	-	-	-	-	1	4	Johan den Dunnen
00003056	-	PubMed: Lin 2006	2-generation family, affected parent	-	-	Taiwan	-	-	-	-	-	Ii	no congenital cataract	1	1	Johan den Dunnen
00003057	-	PubMed: Lin 2006	2-generation family, unaffected carrier daugther	F	-	Taiwan	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00003073	-	PubMed: Pras 2004	6-generation family, 5 affecteds (4F, 1M)	-	yes	Israel	Arab	-	-	-	-	CTRCT13, Ii	<1m bilateral leukocoria (HPO:0000555)	1	5	Johan den Dunnen
00003074	-	-	6-generation family, 4 unaffected carrier parents	-	yes	Israel	Arab	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00003075	-	PubMed: Pras 2004	5-generation family, 1 affected	M	yes	Israel	-	-	-	-	-	CTRCT13, Ii	-	1	1	Johan den Dunnen
00003076	-	-	5-generation family, unaffected carrier parents	-	-	Israel	Arab	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00003079	-	-	3-generation family, 4 affecteds (3F, 1M)	-	yes	Israel	Arab	-	-	-	-	CTRCT13, Ii	-	1	4	Johan den Dunnen
00003080	-	-	3-generation family, 4 unaffected carrier parents	-	yes	Israel	-	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00003081	-	-	5-generaion family, 3 affecteds (2F, 1M)	-	yes	Israel	Arab	-	-	-	-	CTRCT13, Ii	-	1	3	Johan den Dunnen
00003082	-	-	5-generation family, 6 unaffected carriers	-	yes	Israel	Arab	-	-	-	-	Healthy/Control	-	1	6	Johan den Dunnen
00034022	Fam4PatI2;Fam8PatI2	PubMed: Prokudin 2014, PubMed: Ma 2016	2-generation family, 3 affected (mother/twin sons)	F	-	Australia	-	-	-	-	-	CTRCT	see paper; ..., bilateral nuclear cataract, microphthalmia; bilateral cataracts in affected children	1	3	Ivan Prokudin
00293945	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	57	Mohammed Faruq
00314705	-	PubMed: Slavotinek 2015	-	F	-	United States	Hispanic	-	-	-	-	?	no anophthalmia, no microphthalmia, congenital cataracts, unilateral microtia	1	1	Johan den Dunnen
00434149	family	PubMed: Behnam 2016	6-generation family, 2 affected brothers, unaffected heterozygous parents/relatives	M	-	Iran	-	-	-	-	-	CTRCT	congenital cataract, nystagmus	1	2	Johan den Dunnen
00438634	HSC0115	PubMed: Hamdan 2017	WGS analysis 197 individuals with unexplained DEE (unaffected parents)	-	-	Canada	-	-	-	-	pharmaco-resistant seizures	DEE	-	1	1	Johan den Dunnen
00441811	CRCH89	PubMed: Javadiyan 2017	2-generation family, 4 affected sibs (2F, 2M)	F;M	yes	Australia	-	-	-	-	-	CTRCT	see paper; ...	1	4	Johan den Dunnen
00441812	CRCH136	PubMed: Javadiyan 2017	2-generation family, affected brother/sister	F;M	-	Australia	-	-	-	-	-	CTRCT	see paper; ...	1	2	Johan den Dunnen
00441884	Cata_DGU-9;Fam21	PubMed: Aldahmesh 2012, PubMed: Khan 2015	family, 2 affected sibs (F, M), unaffected heterozygous parents	-	yes	Saudi Arabia	-	-	-	-	-	CTRCT	cataract, congenital	1	2	Johan den Dunnen
00444338	Fam9PatII1/2	PubMed: Li 2018	2-generation family, 2 affected sisters, unaffected heterozygous parents	F	-	China	-	-	-	-	-	CTRCT	total cataract, nystagmus/total cataract	2	2	Johan den Dunnen
00444339	FamPat5	PubMed: Li 2018	2-generation family, 1 affected, unaffected heterozygous parents	M	-	China	-	-	-	-	-	CTRCT	total cataract, nystagmus/total cataract	2	1	Johan den Dunnen
00444935	09DG01467	PubMed: Patel 2017	family	-	-	-	-	-	-	-	-	CTRCT	congenital cataract; not syndromic	1	2	Johan den Dunnen
00444962	12DG2168	PubMed: Patel 2017	family	-	-	-	-	-	-	-	-	CTRCT	congenital cataract; not syndromic	1	2	Johan den Dunnen
00444993	Pat7	PubMed: Reis 2013	4-generation family, 7 affected (3F, 4M)/1 unaffected	-	-	United States	Italy	-	-	-	-	CTRCT	congenital cataract; glaucoma	1	1	Johan den Dunnen
00445007	Pat21	PubMed: Reis 2013	-	-	-	United States	-	-	-	-	-	CTRCT	juvenile cataract (unilateral)	1	1	Johan den Dunnen
00468312	Fam21Pat16736	PubMed: Guo 2025	family, several affected	M	-	China	-	-	-	-	-	CTRCT	see paper; ..., posterior cataract; 5.0y-surgery	2	2	Johan den Dunnen
00468313	Fam22Pat19714	PubMed: Guo 2025	patient, no family history	F	-	China	-	-	-	-	-	CTRCT	see paper; ..., cataract; nystagmus; 3.0y-surgery	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

GCNT2 (glucosaminyl (N-acetyl) transferase 2, I-bra...)