Disease #04203 (ATFB (fibrillation, atrial (ATFB)))

Official abbreviation	ATFB
Name	fibrillation, atrial (ATFB)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	60
Phenotype entries for this disease	59
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-02-20 20:57:29 +01:00 (CET)
Date last edited	N/A

Individuals

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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)
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Bulgaria
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Central Europe
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China
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Jordan
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Kenya
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Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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(Kyrgyzstan (Kyrgyz Republic))
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Latvia
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Macedonia
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Malawi
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
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New Zealand
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(Puerto Rico)
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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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
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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
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Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
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Thailand
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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))
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(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
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(Uzbekistan)
Vanuatu
(Vanuatu)
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(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
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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.

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Example	Matches
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60 entries on 1 page. Showing entries 1 - 60.

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
00032402	-	PubMed: Zuo 2013, Journal: Zuo 2013	-	-	-	China	Chinese, Han	-	-	-	-	ATFB	lone atrial fibrillation, no malformations eyes/teeth/umbilicus/heart; onset 32y	PITX2	PITX2	1	1	Johan den Dunnen
00032407	-	PubMed: Wang 2014, Journal: Wang 2014	3-generation family, 4 affecteds (1F, 3M)	-	-	China	Chinese, Han	-	-	-	-	ATFB	see paper; ..	PITX2	PITX2	1	4	Johan den Dunnen
00164519	SAMA0218	-	-	F	no	Italy	White	>38y	-	-	-	ATFB	The proband had a sudden death subsequently resuscitated; frequent arrythmias were reported	ANK2, CACNA1A, CACNA1B, CACNA1C, CASQ2, CAV3, KCNE2, KCNH1, KCNH2, KCNQ1, SCN5A	SCN5A	1	7	Nicola Marziliano
00165023	45	van Tienen, submitted	-	M	no	Netherlands	-	>50y	-	-	-	ATFB	-	LMNA	LMNA	1	1	Florence van Tienen
00226567	Family 3, II-2	-	-	-	-	-	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	1	Yi-Qing Yang
00226568	Family 1, III-2	PubMed: Sun 2013, Journal: Sun 2013	-	F	-	-	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	1	Yi-Qing Yang
00226569	16790700-Pat4	PubMed: Gollob 2006	father and 2 unaffected sons (ECG prolonged P-wave duration)	-	-	Canada	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	3	Johan den Dunnen
00226570	20650941-Fam1	PubMed: Yang 2010	3-generation family, 4 affecteds	-	-	China	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	3	Johan den Dunnen
00226571	20650941-Fam2	PubMed: Yang 2010	3-generation family, 3 affecteds	-	-	China	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	3	Johan den Dunnen
00226572	20650941-Fam3	PubMed: Yang 2010	3-generation family, 3 affecteds	-	-	China	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	3	Johan den Dunnen
00226573	20818502-Fam1	PubMed: Yang 2010	3-generation family, 8 affecteds, fully penetrant	-	-	China	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	7	Johan den Dunnen
00226574	16790700-Pat1	PubMed: Gollob 2006	-	-	-	Canada	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	1	Johan den Dunnen
00226575	16790700-Pat2	PubMed: Gollob 2006	-	-	-	Canada	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	1	Johan den Dunnen
00226576	16790700-Pat3	PubMed: Gollob 2006	-	-	-	Canada	-	-	-	-	-	ATFB	-	GJA5	GJA5	2	1	Johan den Dunnen
00226585	21076161-con	PubMed: Wirka 2011	-	-	-	-	-	-	-	-	-	ATFB	-	GJA5	GJA5	1	1	Johan den Dunnen
00234318	-	PubMed: Hoffmann 2016	analysis 378 patients with early-onset AF (<60y)	F	-	Germany	-	-	-	-	-	ATFB	-	SHOX2	SHOX2	1	1	Sandra Hoffmann
00234319	-	PubMed: Hoffmann 2016	analysis 378 patients with early-onset AF (<60y)	M	-	Germany	-	-	-	-	-	ATFB	-	SHOX2	SHOX2	1	1	Sandra Hoffmann
00234331	-	PubMed: Hoffmann 2016	analysis 378 patients with early-onset AF (<60y)	?	-	Germany	-	-	-	-	-	ATFB	-	SHOX2	SHOX2	1	15	Sandra Hoffmann
00234332	-	PubMed: Hoffmann 2019	-	M	-	Germany	-	-	-	-	-	ATFB	-	SHOX2	SHOX2	1	1	Sandra Hoffmann
00234335	-	PubMed: Hoffmann 2019	-	?	-	Germany	-	-	-	-	-	ATFB	-	SHOX2	SHOX2	1	1	Sandra Hoffmann
00234336	-	PubMed: Hoffmann 2019	-	M	-	Germany	-	-	-	-	-	ATFB	-	SHOX2	SHOX2	1	1	Sandra Hoffmann
00234337	-	PubMed: Hoffmann 2019	-	M	-	Germany	-	-	-	-	-	ATFB	-	SHOX2	SHOX2	1	1	Sandra Hoffmann
00234344	Fam1	PubMed: Li 2018	3-generation family, 5 affected (2F, 3M)	F;M	-	China	-	-	-	-	-	ATFB	atrial fibrillation (permanent 2x, persistent 1x, paroxysmal 1x); ECG heart rate 62-87 beats/min, QRS interval 96-116 ms, corrected QT interval 435-528; ECG left atrial diameter 30-38mm, left ventricular ejection fraction 60-65%	SHOX2	SHOX2	1	5	Johan den Dunnen
00266689	-	PubMed: Benson 1999	-	-	-	-	-	-	-	-	-	ASD7, ATFB	, tricuspid valve abnormality	NKX2-5	NKX2-5	1	1	Liliana Dain
00266734	-	PubMed: Elliott 2003	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266739	-	PubMed: Freudenberg-Hua 2014	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266745	-	PubMed: Goldmuntz 2001	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266756	-	PubMed: Hanley 2016	-	-	-	-	-	-	-	-	-	ASD7, ATFB, CMD, VSD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266764	-	PubMed: Huang 2013	-	-	-	-	-	-	-	-	-	ATFB	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266772	-	PubMed: Kasahara 2000	-	-	-	-	-	-	-	-	-	ASD7, ATFB	, tricuspid valve abnormality	NKX2-5	NKX2-5	1	1	Liliana Dain
00266781	-	PubMed: Kasahara 2004	-	-	-	-	-	-	-	-	-	ASD7, ATFB	, tricuspid valve abnormality	NKX2-5	NKX2-5	1	1	Liliana Dain
00266829	-	PubMed: McElhinney 2003	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266846	-	PubMed: Qu 2014	-	-	-	-	-	-	-	-	-	aortic stenosis, AOVD1, ASD7, ATFB	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266951	-	PubMed: Ritchie 2012	-	-	-	-	-	-	-	-	-	ATFB	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266984	-	PubMed: Watanabe 2002	-	-	-	-	-	-	-	-	-	ASD7, ATFB, RAI	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266986	-	PubMed: Xie 2013	-	-	-	-	-	-	-	-	-	ASD7, ATFB	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266988	-	PubMed: Xie 2013	-	-	-	-	-	-	-	-	-	ATFB	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266997	-	PubMed: Yu 2014	-	-	-	-	-	-	-	-	-	ATFB	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00266999	-	PubMed: Yu 2014	-	-	-	-	-	-	-	-	-	ATFB, TOF	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00267001	-	PubMed: Yuan 2015	-	-	-	-	-	-	-	-	-	ATFB, CCD, CMD, SUD	-	NKX2-5	NKX2-5	1	1	Liliana Dain
00284269	-	PubMed: Otway 2007	-	-	-	-	-	-	-	-	-	ATFB	-	KCNQ1	KCNQ1	1	1	Global Variome, with Curator vacancy
00284319	-	PubMed: Chen 2003, PubMed: Yang 2004, PubMed: El Harchi 2010, PubMed: Kharche 2012, PubMed: Green 2013, PubMed: Chan 2012, PubMed: Yang 2007, PubMed: Restier 2008, PubMed: Smith 2007	-	-	-	-	-	-	-	-	-	ATFB	-	KCNQ1	KCNQ1	1	1	Global Variome, with Curator vacancy
00284320	-	PubMed: Restier 2008, PubMed: Green 2013, PubMed: Chan 2012, PubMed: Hong 2005, PubMed: Smith 2007	-	-	-	-	-	-	-	-	-	ATFB	-	KCNQ1	KCNQ1	1	1	Global Variome, with Curator vacancy
00284325	-	PubMed: Green 2013, PubMed: Lundby 2007	-	-	-	-	-	-	-	-	-	ATFB	-	KCNQ1	KCNQ1	1	1	Global Variome, with Curator vacancy
00284415	-	PubMed: Das 2009, PubMed: Green 2013	-	-	-	-	-	-	-	-	-	ATFB	-	KCNQ1	KCNQ1	1	1	Global Variome, with Curator vacancy
00284439	-	PubMed: Ki 2014, PubMed: Imaniastuti 2014	-	-	-	-	-	-	-	-	-	ATFB	-	KCNQ1	KCNQ1	1	1	Global Variome, with Curator vacancy
00284872	-	PubMed: Olesen 2014	-	-	-	-	-	-	-	-	-	ATFB	-	KCNQ1	KCNQ1	1	1	Global Variome, with Curator vacancy
00285407	-	PubMed: Olesen 2012	-	-	-	-	-	-	-	-	-	ATFB	-	KCNE1	KCNE1	1	1	Global Variome, with Curator vacancy
00285425	-	PubMed: Olesen 2012	-	-	-	-	-	-	-	-	-	ATFB	-	KCNE1	KCNE1	1	1	Global Variome, with Curator vacancy
00307333	family	PubMed: Mechakra 2019	3-generation family, 5 affected (3F, 2M)	F;M	-	France	-	-	-	-	-	ATFB	see paper; ..., atrial fibrillation	PITX2	PITX2	1	1	Johan den Dunnen
00433879	FamPatIII5	PubMed: Malakootian 2022	2-generation family, 4 affected (2F, 2M)	M	-	Iran	-	-	-	-	-	ATFB	see paper; ..., early onset atrial fibrillation	-	DTNA, NEBL, SCN5A	3	4	Johan den Dunnen
00451683	-	-	-	?	-	Germany	-	-	-	-	-	ATFB	-	CAV1	CAV1	1	1	Sandra Hoffmann
00451685	-	-	-	?	?	Germany	-	-	-	-	-	ATFB	-	CAV1	CAV1	1	1	Sandra Hoffmann
00451688	-	-	-	?	?	Germany	-	-	-	-	-	ATFB	-	CAV1	CAV1	1	1	Sandra Hoffmann
00451689	-	-	-	?	?	Germany	-	-	-	-	-	ATFB	-	CAV1	CAV1	1	1	Sandra Hoffmann
00451690	-	-	-	?	?	Germany	-	-	-	-	-	ATFB	-	CAV1	CAV1	1	1	Sandra Hoffmann
00451691	-	-	-	?	?	Germany	-	-	-	-	-	ATFB	-	CAV1	CAV1	1	1	Sandra Hoffmann
00451692	-	-	-	?	?	Germany	-	-	-	-	-	ATFB	-	CAV1	CAV1	1	1	Sandra Hoffmann
00451693	-	-	-	?	?	Germany	-	-	-	-	-	ATFB	-	CAV1	CAV1	1	1	Sandra Hoffmann
00452991	-	-	-	-	-	-	-	-	-	-	-	ATFB	Dental developmental abnormalities and hypoplastic fifth distal phalanges/nails as well as mild facial dysmorphisms characterized by a bulbous nasal tip and micrognathia.	SOX4	SOX4	1	1	Yi-Qing Yang

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Global Variome shared LOVD

MADD (MAP-kinase activating death domain)