Disease #05696 (BARTS (Bartter syndrome (BARTS)))

Official abbreviation	BARTS
Name	Bartter syndrome (BARTS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	52
Phenotype entries for this disease	51
Associated with 2 genes	KCNJ1, MAGED2
Associated tissues	-
Disease features	-
Remarks	-

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'

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.

52 entries on 1 page. Showing entries 1 - 52.

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
00206495	Pat4	PubMed: Bruno 2011, Journal: Bruno 2011	-	-	-	Australia	-	-	-	-	-	BARTS	-	CLCNKB	CLCNKB	1	1	Damien Bruno
00288242	Fam1PatII1	PubMed: Laghmani 2015	3-generation family, 3 affected, 2 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	BARTS	19w-onset polyhydramnios; gestational age at delivery 22w; no neonatal survival	MAGED2	MAGED2	1	3	Johan den Dunnen
00288243	Fam1PatII4	PubMed: Laghmani 2015	PatII4	M	-	-	-	-	-	-	-	BARTS	19w-onset polyhydramnios; amniotic fluid index 51cm; gestational age at delivery 27w; neonatal survival; polyuria 5w; nephrocalcinosis; indometacin 1y	MAGED2	MAGED2	1	1	Johan den Dunnen
00288244	Fam1PatIII1	PubMed: Laghmani 2015	PatIII1	M	-	-	-	-	-	-	-	BARTS	19w-onset polyhydramnios; amniotic fluid index 98cm; gestational age at delivery 31w; neonatal survival; polyuria 1w; nephrocalcinosis; no indometacin	MAGED2	MAGED2	1	1	Johan den Dunnen
00288245	Fam2PatII1	PubMed: Laghmani 2015	2-generation family, 2 affected brothers, unaffected heterozygous carrier mother	M	-	-	-	-	-	-	-	BARTS	polyhydramnios; gestational age at delivery 25w; no neonatal survival;	MAGED2	MAGED2	2	2	Johan den Dunnen
00288246	Fam2PatII2	PubMed: Laghmani 2015	PatII2	M	-	-	-	-	-	-	-	BARTS	20w-onset polyhydramnios; amniotic fluid index 67cm; gestational age at delivery 28w; neonatal survival; polyuria 5w; no nephrocalcinosis; no indometacin	MAGED2	-	-	1	Johan den Dunnen
00288247	Fam3PatII1	PubMed: Laghmani 2015	2-generation family, 3 affected brothers, unaffected heterozygous carrier mother	M	-	-	-	-	-	-	-	BARTS	polyhydramnios; gestational age at delivery 34w; neonatal survival; no polyuria; no indometacin	MAGED2	MAGED2	1	3	Johan den Dunnen
00288248	Fam3PatII2	PubMed: Laghmani 2015	PatII2	M	-	-	-	-	-	-	-	BARTS	polyhydramnios; gestational age at delivery 33w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 9y	MAGED2	MAGED2	1	1	Johan den Dunnen
00288249	Fam3PatII3	PubMed: Laghmani 2015	PatII3	M	-	-	-	-	-	-	-	BARTS	19w-onset polyhydramnios; amniotic fluid index 72cm; gestational age at delivery 31w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 3y	MAGED2	MAGED2	1	1	Johan den Dunnen
00288250	Fam4PatII1	PubMed: Laghmani 2015	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	-	-	-	-	-	-	BARTS	20w-onset polyhydramnios; gestational age at delivery 24w; neonatal survival; polyuria 6w; nephrocalcinosis; indometacin 1y	MAGED2	MAGED2	1	1	Johan den Dunnen
00288251	Fam5PatII1	PubMed: Laghmani 2015	2-generation family, 1 affected, unaffected parents	M	-	-	-	-	-	-	-	BARTS	20w-onset polyhydramnios; gestational age at delivery 26w; neonatal survival; polyuria 4w; nephrocalcinosis; no indometacin	MAGED2	MAGED2	1	1	Johan den Dunnen
00288252	Fam6PatII1	PubMed: Laghmani 2015	2-generation family, 1 affected, unaffected parents	M	-	-	-	-	-	-	-	BARTS	19w-onset polyhydramnios; amniotic fluid index 40cm; gestational age at delivery 27w; neonatal survival; polyuria 4w; nephrocalcinosis; indometacin 1.2y	MAGED2	MAGED2	1	1	Johan den Dunnen
00288253	Fam7PatII1	PubMed: Laghmani 2015	2-generation family, 2 affected brothers, unaffected heterozygous carrier mother	M	-	-	-	-	-	-	-	BARTS	polyhydramnios; gestational age at delivery 30w; no neonatal survival;	MAGED2	MAGED2	1	2	Johan den Dunnen
00288254	Fam7PatII2	PubMed: Laghmani 2015	PatII2	M	-	-	-	-	-	-	-	BARTS	polyhydramnios; gestational age at delivery 29w; neonatal survival; polyuria 1w; nephrocalcinosis; indometacin 2.8y	MAGED2	MAGED2	1	1	Johan den Dunnen
00361945	Pat17	PubMed: Brochard 2009	patient	M	-	France	white	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	2	1	Johan den Dunnen
00361946	Pat20.1	PubMed: Brochard 2009	family, 2 affected	F	-	France	white	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	2	2	Johan den Dunnen
00361947	Pat20.2	PubMed: Brochard 2009	relative of Pat20.1	-	-	France	white	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	2	1	Johan den Dunnen
00361948	Pat21	PubMed: Brochard 2009	patient	F	-	Morocco	-	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	1	1	Johan den Dunnen
00361949	Pat22	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	2	1	Johan den Dunnen
00361950	Pat24	PubMed: Brochard 2009	patient	M	-	France	Africa-N	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	1	1	Johan den Dunnen
00361951	Pat25	PubMed: Brochard 2009	patient	M	-	France	white	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	2	1	Johan den Dunnen
00361952	Pat26	PubMed: Brochard 2009	patient	-	-	Mali	-	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	1	1	Johan den Dunnen
00361953	Pat27	PubMed: Brochard 2009	patient	M	-	Algeria	-	-	-	-	-	BARTS	-	SLC12A1	SLC12A1	1	1	Johan den Dunnen
00361954	Pat28	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	CLCNKB	CLCNKB	1	1	Johan den Dunnen
00361955	Pat29	PubMed: Brochard 2009	patient	M	-	Tunisia	-	-	-	-	-	BARTS	-	CLCNKB	CLCNKB	1	1	Johan den Dunnen
00361956	Pat30	PubMed: Brochard 2009	patient	F	-	Congo	-	-	-	-	-	BARTS	-	CLCNKB	CLCNKB	1	1	Johan den Dunnen
00361957	Pat31	PubMed: Brochard 2009	patient	M	-	France	white	-	-	-	-	BARTS	-	CLCNKB	CLCNKB	1	1	Johan den Dunnen
00361958	Pat32	PubMed: Brochard 2009	patient	-	-	Morocco	-	-	-	-	-	BARTS	-	CLCNKB	CLCNKB	1	1	Johan den Dunnen
00361959	Pat33	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	CLCNKB	CLCNKB	1	1	Johan den Dunnen
00361960	Pat34	PubMed: Brochard 2009	patient	-	-	France	white	-	-	-	-	BARTS	-	BSND	BSND	1	1	Johan den Dunnen
00361961	Pat35	PubMed: Brochard 2009	patient	-	-	France	white	-	-	-	-	BARTS	-	BSND	BSND	1	1	Johan den Dunnen
00361962	Pat36	PubMed: Brochard 2009	patient	-	-	Algeria	-	-	-	-	-	BARTS	-	BSND	BSND	1	1	Johan den Dunnen
00361963	Pat37	PubMed: Brochard 2009	patient	-	-	France	white	-	-	-	-	BARTS	-	BSND	BSND	1	1	Johan den Dunnen
00361964	Pat1.1	PubMed: Brochard 2009	family, 2 affected	F	-	Algeria	-	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	1	2	Johan den Dunnen
00361965	Pat1.2	PubMed: Brochard 2009	relative of Pat1.1	M	-	Algeria	-	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	1	1	Johan den Dunnen
00361966	Pat2	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361967	Pat3	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361968	Pat4.1	PubMed: Brochard 2009	family, 2 affected	M	-	Mali	-	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	1	2	Johan den Dunnen
00361969	Pat4.2	PubMed: Brochard 2009	relative of Pat4.1	M	-	Mali	-	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	1	1	Johan den Dunnen
00361970	Pat5	PubMed: Brochard 2009	patient	M	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361971	Pat6	PubMed: Brochard 2009	patient	M	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361972	Pat7	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361973	Pat8	PubMed: Brochard 2009	patient	M	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	1	1	Johan den Dunnen
00361974	Pat9.1	PubMed: Brochard 2009	family, 2 affected	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	2	Johan den Dunnen
00361975	Pat9.2	PubMed: Brochard 2009	relative of Pat9.1	M	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361976	Pat10.1	PubMed: Brochard 2009	family, 2 affected	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	2	Johan den Dunnen
00361977	Pat10.2	PubMed: Brochard 2009	relative of Pat10.1	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361978	Pat11	PubMed: Brochard 2009	patient	F	-	Turkey	-	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	1	1	Johan den Dunnen
00361979	Pat12	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361980	Pat13	PubMed: Brochard 2009	patient	F	-	Morocco	-	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	1	1	Johan den Dunnen
00361981	Pat14	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen
00361982	Pat15	PubMed: Brochard 2009	patient	F	-	France	white	-	-	-	-	BARTS	-	KCNJ1	KCNJ1	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD