Disease #04204 (ASD (septal defect, atrial (ASD)))

Official abbreviation	ASD
Name	septal defect, atrial (ASD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	92
Phenotype entries for this disease	93
Associated with 1 gene	TBX20
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-02-20 21:20:25 +01:00 (CET)
Date last edited	2015-12-08 23:53:05 +01:00 (CET)

Individuals

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'

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92 entries on 1 page. Showing entries 1 - 92.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00001464	-	PubMed: Fusco 2004	-	F	?	-	-	-	-	-	-	ASD, IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001471	IP-48	PubMed: Fusco 2012	-	F	?	Italy	-	-	-	-	-	ASD, IP	-	IKBKG	G6PD, IKBKG	1	1	Francesca Fusco
00001480	-	-	-	F	?	-	-	-	-	-	-	ASD, IP, VSD	-	IKBKG	IKBKG	1	1	Francesca Fusco
00001482	-	-	-	?	?	-	-	-	-	-	-	ASD, IP	-	IKBKG	IKBKG	1	1	Francesca Fusco
00032403	-	PubMed: Yuan 2013, Journal: Yuan 2013	-	M	-	China	Chinese, Han	>12y	-	-	-	ASD	-	PITX2	PITX2	1	1	Johan den Dunnen
00032404	-	PubMed: Yuan 2013, Journal: Yuan 2013	-	F	-	China	Chinese, Han	>03y	-	-	-	ASD	no malformations eyes/teeth/umbilicus	PITX2	PITX2	1	1	Johan den Dunnen
00104965	27866708-Fam1Pat1/2	PubMed: Bi 2012, Journal: Bi 2012	-	-	-	-	white	-	-	-	-	ASD	autism spectrum disorder	ABCA1	ABCA1	1	1	Johan den Dunnen
00204350	FamPatIII2	PubMed: Joziasse 2011	3-generation family, 1 affected	M	-	Netherlands	-	-	-	-	-	ASD	Down syndrome, congenital heart defect; unaffected carrier father	ACVR1	ACVR1, BMPR1A, ERBB3	3	5	LOVD
00266674	-	PubMed: Abou Hassan 2015	-	-	-	-	-	-	-	-	-	ASD, TOF	, JLNS: jervell and lange-nielsen syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266676	-	PubMed: Abou Hassan 2015	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266677	-	PubMed: Abou Hassan 2015	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266678	-	PubMed: Abou Hassan 2015	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266679	-	PubMed: Akçaboy 2008	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266682	-	PubMed: Beffagna 2013	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266685	-	PubMed: Belvís 2009	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266693	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266695	-	PubMed: Bermúdez-Jiménez 2017	-	-	-	-	-	-	-	-	-	ASD, LVNC	, pulmonary atresia with ventricular septal defect	NKX2-5	NKX2-5	1	1	Liliana Dain
00266712	-	PubMed: Costa 2013	-	-	-	-	-	-	-	-	-	AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266714	-	PubMed: Costa 2013	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266718	-	PubMed: De Luca 2011	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266720	-	PubMed: Dentice 2006	-	-	-	-	-	-	-	-	-	AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266721	-	PubMed: Dentice 2006	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266724	-	PubMed: Draus 2009	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266731	-	PubMed: El-Bouchikhi 2017	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266737	-	PubMed: Esposito 2009	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266738	-	PubMed: Freudenberg-Hua 2014	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266741	-	PubMed: Gioli-Pereira 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266744	-	PubMed: Goldmuntz 2001	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266747	-	PubMed: Granados-Riveron 2012	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266778	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266788	-	PubMed: Khatami 2017	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266814	-	PubMed: Mattapally 2018	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266825	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266827	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266830	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266839	-	PubMed: Porto 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266845	-	PubMed: Pulignani 2018	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266851	-	PubMed: Rauch 2010	-	-	-	-	-	-	-	-	-	ASD, TOF	, JLNS: jervell and lange-nielsen syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266852	-	PubMed: Rauch 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266855	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266858	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266862	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266865	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266866	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266880	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266887	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266888	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266891	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266893	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266894	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266895	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266902	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266909	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266911	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266913	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266915	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266916	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266927	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266929	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266930	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266932	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266934	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266935	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266936	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266941	-	PubMed: Reamon-Buettner 2004	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266948	-	PubMed: Reamon-Buettner 2013	-	-	-	-	-	-	-	-	-	AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266953	-	PubMed: Salazar 2011	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266963	-	PubMed: Stallmeyer 2010	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266966	-	PubMed: Tang 2016	-	-	-	-	-	-	-	-	-	ASD, AVSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266967	-	PubMed: Tian 2008	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266968	-	PubMed: Tian 2008	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266969	-	PubMed: Tian 2008	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266972	-	PubMed: Uysal 2017	-	-	-	-	-	-	-	-	-	ASD, TOF	, JLNS: jervell and lange-nielsen syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266973	-	PubMed: van Engelen 2012	-	-	-	-	-	-	-	-	-	ASD, TOF	, JLNS: jervell and lange-nielsen syndrome	NKX2-5	NKX2-5	1	1	Liliana Dain
00266974	-	PubMed: van Engelen 2012	-	-	-	-	-	-	-	-	-	AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266975	-	PubMed: Vega 2016	-	-	-	-	-	-	-	-	-	ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266977	-	PubMed: Wang 2011	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266981	-	PubMed: Wang 2011	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00267012	-	ClinVar	-	-	-	-	-	-	-	-	-	ASD, CMD, LVNC, VF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00267014	-	ClinVar	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00267015	-	ClinVar	-	-	-	-	-	-	-	-	-	ASD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00300269	Pt5519	PubMed: Liu 2020, Journal: Liu 2020	-	F	no	France	-	>42y	-	-	-	ASD	Atrial Septal Aneurysm, Mitral Valve Prolaps	TAB2	TAB2	1	2	Patrice Bouvagnet
00300270	Pt5518	PubMed: Liu 2020, Journal: Liu 2020	-	F	no	France	-	>18y	-	-	-	ASD	Atrial Septal Defect, Mitral Valve Prolaps	TAB2	TAB2	1	3	Patrice Bouvagnet
00314958	-	-	-	-	-	-	-	-	-	-	-	ASD	pulmonary arterial hypertension (HP:0002092)	SOX17	SOX17	1	1	Yi-Qing Yang
00385875	pat4	-	sporadic cases	M	?	Egypt	-	-	-	-	-	ASD	syndromic ASD	NKX2-5	NKX2-5	1	1	Alaaeldin Fayez
00387689	FamPatIII1	PubMed: Palomino Doza 2018, Journal: Palomino Doza 2018	3-generation family, 5 affected (3F, 2M)	F	?	Spain	-	-	-	-	-	ASD, SUD, VSD	see paper; ..., secundum atrial septal defect (HP:0001684)	ACTC1, CASQ2, DMD, DTNA, HCN4, LDB3, LMNA, MYBPC3, MYH7, NKX2-5, SCN5A, TAZ, TNNT2, TPM1, VCL	NKX2-5	1	4	Alaaeldin Fayez
00387692	FamPatIV1	PubMed: Morlanes-Gracia 2021, Journal: Morlanes-Gracia 2021	4-generation family, 8 affected (3F, 5M)	M	no	Spain	-	-	-	-	-	ASD, SUD	Atrioventricular block (HP:0001678), Mildly reduced ejection fraction (HP:0012663), Apical hypertrabeculation of the left ventricle (HP:0031195), Left ventricular noncompaction cardiomyopathy (HP:0011664), Paroxysmal atrial fibrillation (HP:0004757), Ventricular tachycardia (HP:0004756), Perimembranous ventricular septal defect (HP:0011682), Atrial septal defect (HP:0001631), Persistent left superior vena cava (HP:0005301), Absent right superior vena cava (HP:0011666), First degree atrioventricular block (HP:0011705), Third degree atrioventricular block (HP:0001709),	NKX2-5	NKX2-5	1	8	Alaaeldin Fayez
00446730	Fam1PatIII1	PubMed: Kirk 2007	3-generation family, 3 affected (3F)	F	-	Australia	-	-	-	-	-	ASD	see paper; ..., atrial septal defect corrected surgically in early childhood, normal left ventricular function	TBX20	TBX20	1	3	Johan den Dunnen
00446731	Fam2PatIII4	PubMed: Kirk 2007	3-generation family, 6 affected (4F, 2M)	M	-	Australia	-	-	-	-	-	ASD	see paper; ..., small atrial septal defect, mild coarctation aorta; 6m/6y-mild-to-moderate pulmonary hypertension; 31y-percutaneous device closure ASD; ECG reduced LV function	TBX20	TBX20	1	6	Johan den Dunnen
00446732	FamPatIII1	PubMed: Liu 2014	3-generation family, 3 affected (2F, M)	M	-	China	-	-	-	-	-	ASD	see paper; ..., 7m-atrial septal defect	-	TBX20	1	3	Johan den Dunnen
00446733	FamPatIV4	PubMed: Posch 2010	4-generation family, 4 affected (3F, M)	M	-	Lebanon	-	-	-	-	-	ASD	see paper; ..., congenital atrial septal defects, patent foramen ovale, cardiac valve defects	TBX20	TBX20	1	4	Johan den Dunnen
00446734	FamPatII3	PubMed: Zhou 2016	3-generation family, 4 affected (2F, 2M)	M	-	China	-	-	-	-	-	ASD	see paper; ..., adult‑onset dilated cardiomyopathy; family congenital atrial septal defect	TBX20	TBX20	1	4	Johan den Dunnen

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Global Variome shared LOVD

UBA1 (ubiquitin-like modifier activating enzyme 1)