All individuals with variants in gene ITGA7

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.

50 entries on 1 page. Showing entries 1 - 50.

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
00150177	26539891-FamBAB5492	PubMed: Karaca 2015	-	-	-	-	-	-	-	family structure in paper	-	?	microcephaly, agenesis of corpus callosum, cerebellar hypoplasia, seizures	1	1	Johan den Dunnen
00210482	09590299-Pat1	PubMed: Hayashi 1998	-	M	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00210483	09590299-Pat2	PubMed: Hayashi 1998	-	F	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00210484	09590299-Pat3	PubMed: Hayashi 1998	-	M	-	Japan	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00210485	10923047-p	-	-	-	-	Italy	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00210486	10923047-c	PubMed: Pirulli 2000	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	2	26	Johan den Dunnen
00210487	10923047-c	-	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	2	60	Johan den Dunnen
00210488	12057917-PatES	-	30 CMD patients analysed	-	-	Italy	-	-	-	-	-	MDC	-	2	1	Johan den Dunnen
00210489	12057917-c	PubMed: Pegoraro 2002	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	14	Johan den Dunnen
00210490	12057917-c	PubMed: Pegoraro 2002	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210491	12057917-c	PubMed: Pegoraro 2002	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210492	12057917-c	PubMed: Pegoraro 2002	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210493	12057917-c	PubMed: Pegoraro 2002	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210494	12057917-c	PubMed: Pegoraro 2002	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210495	12057917-c	PubMed: Pegoraro 2002	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210496	12057917-c	PubMed: Pegoraro 2002	-	-	-	Italy	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00210497	-	{PMID16741161:Rudd	-	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00210498	12057917-p	PubMed: Pegoraro 2002	30 CMD patients analysed	-	-	Italy	-	-	-	-	-	MDC	-	1	1	Johan den Dunnen
00210499	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210500	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210501	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210502	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210503	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210504	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210505	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210506	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210507	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210508	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210509	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210510	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210511	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210512	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210513	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210514	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210515	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210516	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210517	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210518	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210519	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210520	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210521	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210522	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210523	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00210524	Emory-?	from website {DBsub-Emory}	-	-	-	(United States)	-	-	-	-	-	?	-	1	1	Madhuri Hegde
00288988	Pat42	PubMed: Punetha 2016	analysis 94 myopathy cases	-	-	-	-	-	-	-	-	LGMD	-	2	1	Johan den Dunnen
00290758	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290759	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00305740	P3	PubMed: Yu 2017	analysis 180 LGMD patients	F	-	China	-	-	-	-	-	LGMD	severe (MRC grade <3/5); lower limbs and upper limbs equally affected; distal weakness; neck flexor weakness (HP:0003722); facial muscles affected; contractures; serum CK max. 160 IU/L; biopsy dystrophic;	2	1	Johan den Dunnen
00362000	Pat3AB	PubMed: Duvvari 2016	patient	-	-	Netherlands	white	-	-	-	-	retinal disease	-	1	1	LOVD
00446850	Pat152	PubMed: Miszalski-Jamka 2017	case not solved	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

ITGA7 (integrin, alpha 7)