Disease #05128 (HTX (heterotaxy, visceral (HTX, situs inversus/situs ambiguus)))

Official abbreviation	HTX
Name	heterotaxy, visceral (HTX, situs inversus/situs ambiguus)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	102
Phenotype entries for this disease	100
Associated with 2 genes	C1orf127, PKD1L1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-01-31 12:35:57 +01:00 (CET)
Date last edited	N/A

Individuals

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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.

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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
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>=	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
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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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102 entries on 2 pages. Showing entries 1 - 100.

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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
00058555	FamPatII1/2	PubMed: Reish 2016	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	yes	Israel	Bedouin	-	-	-	-	HTX	situs inversus (HP:0001696)	NME7	ARHGEF11, FAM208A, FLG, MUC1, NME7, OR6P1, PBXIP1, PXK	8	2	Ruti Parvari
00300272	Pt5986	PubMed: Liu 2020, Journal: Liu 2020	-	M	no	France	-	00y	-	-	-	HPE, HTX	Left pulmonary isomerism, polysplenia, absent tail of pancreas, abdominal situs inversus, left cleft lip and palate, lobar holoproencephaly	SHH	SHH	1	1	Patrice Bouvagnet
00300273	Pt6402	PubMed: Liu 2020, Journal: Liu 2020	-	M	no	France	-	00y	-	-	-	CHD, HTX	Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVventriculo canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch, Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus, Right pulmonary isomerism, asplenia, intestinal malrotation, horseshoe kidney, partial agenesis of rectum and anus, Left Superior Vena Cava, total anomalous pulmonary vein return, complete AtrioVentricular canal, hypoplastic left ventricle, double outlet right ventricle, L-Transposition of the Great Arteries, right aortic arch	-	ZIC3	1	2	Patrice Bouvagnet
00300275	Pt7129	PubMed: Liu 2020, Journal: Liu 2020	-	M	no	France	-	00y	-	-	-	CHD, HTX	Complete AtrioVentricular canal, double outlet right ventricle, pulmonary trunk hypoplasia, Dextrocardia; stomach on the right; gall bladder of the left, Dextrocardia; stomach on the right; gall bladder of the left; Complete AtrioVentriculo canal, double outlet right ventricle, pulmonary trunk hypoplasia	-	ZIC3	1	2	Patrice Bouvagnet
00300276	Pt7883	PubMed: Liu 2020, Journal: Liu 2020	-	M	no	France	-	00y01m?	-	-	-	CHD, HTX	-	ZIC3	ZIC3	1	1	Patrice Bouvagnet
00300277	Pt7479	PubMed: Liu 2020, Journal: Liu 2020	-	M	no	France	-	00y	-	-	-	CHD, HTX	, Partial anomalous pulmonary vein return, Ventricular Septal Defect, hypoplastic left ventricle, double outlet right ventricle, TGA, peripheral pulmonary artery stenosis, situs ambiguus, Asplenia, right stomach	-	GDF1	1	2	Patrice Bouvagnet
00300279	Pt7121	PubMed: Liu 2020, Journal: Liu 2020	-	M	no	France	-	00y	-	-	-	CHD, HTX	Left Superior Vena Cava, complete AtrioVentricular canal, pulmonary atresia, right pulmonary isomerism, asplenia, intestinal malrotation, left pancreatic head, fused midline suprarenal glands	-	GDF1	2	1	Patrice Bouvagnet
00300280	Pt7435	PubMed: Liu 2020, Journal: Liu 2020	-	F	no	France	-	00y	-	-	-	CHD, HTX	Common atrium, mitral atresia, hypoplastic left ventricle, Ventricular Septal Defect, right pulmonary isomerism, intestinal malrotation	-	MMP21	2	1	Patrice Bouvagnet
00300281	Pt6428	PubMed: Liu 2020, Journal: Liu 2020	-	M	no	France	-	00y	-	-	-	CHD, HTX	Left Superior Vena Cava, single atrium, complete AV canal, double outlet right ventricle, sub-valvar pulmonary stenosis, valvar pulmonary stenosis, right aortic arch, right pulmonary isomerism, intestinal malrotation	-	DNAI1	2	1	Patrice Bouvagnet
00396467	SGP2019-00569-1	-	-	M	yes	(Saudi Arabia)	Arab	-	-	-	-	HTX	abdominal situs inversus dextrocardia transposition of great arteries ventricular septal defect	-	SNAP91	1	1	Sulman Basit
00404724	194922	-	prenatal trio exom Dx after ultra-sound abnormalities	?	-	-	-	-	-	-	-	HTX	Dextrocardia, Aortic valve stenosis, Abnormal heart morphology, Sinus bradycardia, Ventricular septal defect, Echogenic fetal bowel, Increased nuchal translucency, Abnormality of prenatal development or birth, Heterotaxy	MNS1	MNS1	2	1	Andreas Laner
00462441	Fam1PatII1	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents, pregnancy terminated	M	no	United Kingdom (Great Britain)	-	<0d	-	-	-	HTX	see paper; ..., prenancy terminated 17gw, situs ambiguus; bilateral trilobed lungs, gut malrotation; double outlet right ventricle, ventricular septal defect, mitral atreasia, hypolastic left ventricle; cystic hygroma; mildy arched palate	-	C1orf127	2	3	Johan den Dunnen
00462442	Fam1PatII3	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	sister, pregnancy terminated	F	no	United Kingdom (Great Britain)	-	<0d	-	-	-	HTX	see paper; ..., prenancy terminated 18gw; situs ambiguus; bilateral bilobed lungs, gut malrotation; hypoplastic left heart syndrome, aortic atresia;	-	C1orf127	2	1	Johan den Dunnen
00462443	Fam1PatII4	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	sister, pregnancy terminated	F	no	United Kingdom (Great Britain)	-	-	-	-	-	HTX	see paper; ..., situs solitus ; normal position organs; no cardiac anomalies;	-	C1orf127	2	1	Johan den Dunnen
00462444	Fam2PatII1	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, affectedsister/brother, unaffected heterozygous carrier parents	F	yes	Lebanon	-	-	-	-	-	HTX	see paper; ..., situs inversus; complete reversal position organs; small ventricular septal defect (closed sponteanously); dysmorphism; craniosynostosis, digital anomalies consistent with de novo TWIST1 microdeletion (Saethre-Chotzen syndrome)	-	C1orf127	1	2	Johan den Dunnen
00462445	Fam2PatII2	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	brother	M	yes	Lebanon	-	-	-	-	-	HTX	see paper; ..., situs solitus ; normal position organs; no cardiac anomalies;	-	C1orf127	1	1	Johan den Dunnen
00462446	Fam3PatII2	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Saudi Arabia	-	67d	-	-	-	HTX	see paper; ..., 67d-deceased; situs ambiguus; atrial isomerism; left atrial isomerism, unbalanced aventricular septal defect with small left ventricle, severe left ventricleot obstruction, common atrioventricular valve with severe “multiple jet” regurgitation and pulmonary valve regurgitation; bilateral hydrocele; left inguinal hernia	-	C1orf127	1	1	Johan den Dunnen
00462447	Fam4PatI1	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, affected mother/3 duagthers, unaffected heterozygous carrier parents	F	yes	Saudi Arabia	-	-	-	-	-	HTX	see paper; ..., situs inversus; complete reversal position organs; asymptomatic dextrocardia; large left renal angiomyolipoma; left renal sinus arterio-vascular malformation	-	C1orf127	1	4	Johan den Dunnen
00462448	Fam4PatII4	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	daughter	F	yes	Saudi Arabia	-	-	-	-	-	HTX	see paper; ..., situs ambiguus; horseshoe kidney; no cardiac anomalies;	-	C1orf127	1	1	Johan den Dunnen
00462449	Fam4PatII6	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	daughter	F	yes	Saudi Arabia	-	-	-	-	-	HTX	see paper; ..., situs ambiguus; normal position organs, small accessory spleen; no cardiac anomalies;	-	C1orf127	1	1	Johan den Dunnen
00462450	Fam4PatII7	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	daughter	F	yes	Saudi Arabia	-	-	-	-	-	HTX	see paper; ..., situs ambiguus; complete reversal with levocardia; left isomerism, levocardia, large atrial septal defect, interrupted inferior vena cava, bilateral superior vena cava, dilated coronary sinus; hydronephrosis; cyanosis; abnormality prenatal developmental birth; down slanting palpebral fissures; low set ears, micrognathia	-	C1orf127	1	1	Johan den Dunnen
00462451	Fam5PatII3	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Saudi Arabia	-	-	-	-	-	HTX	see paper; ..., situs ambiguus; dextrocardia, lung left isomerism, polysplenia; auricular septum defect, partial anomalous pulmonary venous return, bilateral superior vena cava, ventricular septum defect (repaired), mild tricuspid, mitral valve insufficiency; recurrent respiratory infections and asthma; high forehead; relatively small posteriorly rotated ears; right eye prominent (mild exophthalmos); bilateral 5th finger clinodactyly; mild pectus excavatum; pulmonary hypertension and features; right mainstem bronchus bronchomalacia; bilateral grade 2 hydronephrosis	-	C1orf127	1	1	Johan den Dunnen
00462452	Fam6PatII2	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents	F	yes	United Arab Emirates	-	-	-	-	-	HTX	see paper; ..., right isomerim; midline liver, absent spleen, bilateral right atrial appendages; unbalanced complete atrioventricular canal with hypoplastic left ventricle, double outlet right ventricle with l-malposed great arteries, common atrium, moderate subvalvular pulmonary stenosis, small patent ductus arteriosus, interrupted inferior vena cava, bilateral superior vena cava, pulmonary veins connected to right-sided atrial mass;	-	C1orf127	1	3	Johan den Dunnen
00462453	Fam6PatII4	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	nephew	M	yes	United Arab Emirates	-	-	-	-	-	HTX	see paper; ..., situs ambiguus; isolated dextrocardia; lleft transposition great arteries, large perimembranous ventricular septal defect, pulmonary atresia; mild dysmorphic features, retrognathia, depressed nasal bridge; midsternal scars previous surgeries, pectus excavatum; acquired hypothyrodisim	-	C1orf127	1	1	Johan den Dunnen
00462454	Fam6PatII6	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	niece	F	yes	United Arab Emirates	-	9m	-	-	-	HTX	see paper; ..., 9m-deceased; situs solitus ; normal position organs; taussig-bing anomaly, transposition great arteries, subpulmonary ventricular septal defect, atrial septal defect, double outlet right ventricle, side-by-side great arteries, yocoub type E coronaries, hypoplastic transverse aortic arch, preductal coA, patent ductus arteriosus dependent lower body perfusion, restrictive patent arterial duct;	-	C1orf127	1	1	Johan den Dunnen
00462455	Fam7PatII1	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	yes	Syria	-	<0d	-	-	-	HTX	see paper; ..., prenancy terminated 23gw; situs ambiguus; complex cardiac heterotaxy;	-	C1orf127	1	1	Johan den Dunnen
00462456	Fam8PatII4	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Saudi Arabia	-	5m	-	-	-	HTX	see paper; ..., 5m-deceased; situs ambiguus; midline liver with right-sided stomach compatible with abdominal situs inversus, evident present luq spleen; congenital heart disease, double outlet right ventricle, mirror-image heart, atrioventricular canal status post sternotomy, pulmonary atresia banding; persistent hyperkalemia reviewed by nephrology endocrine team; resolved acute kidney injury; elevated liver enzymes	-	C1orf127	1	1	Johan den Dunnen
00462457	Fam9PatII1	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	United States	Guatemala	-	-	-	-	HTX	see paper; ..., situs inversus; right-sided stomach, midline liver, spleen not definitely visualized, mild right renal central pelvocaliectasis; double outlet right ventricle, complete atrioventricular canal, D malposed great vessels, moderate reverse oriented patent ductus arteriosus, interrupted inferior vena cava with azygous continuation to R superior vena cava, hepatic veins drain to left sided atrium	-	C1orf127, NODAL	2	1	Johan den Dunnen
00462458	Fam10PatII5	PubMed: Szenker-Ravi 2025, Journal: Szenker-Ravi 2025	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	United States	Guatemala	-	-	-	-	HTX	see paper; ..., situs inversus; right-sided stomach, midline liver, right-sided spleen, cecum in the left-lower quadrant; dextrocardia, transposition great arteries, pulmonary atresia, patent ductus arteriosus, atrial septal defect, ventricular septal defect, left aortic arch, common origin right innominate and left common carotid arteries; subdural; subpial; subarachnoid hemorrhages; feeding intolerance; episodes of hypoglycemia and lactic acidosis	-	C1orf127	1	1	Johan den Dunnen
00462493	FamG1	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462494	FamG2	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462495	FamG3	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462496	FamG4	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462497	FamG5	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462498	FamG6	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462499	FamG7	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462500	FamG8	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462501	FamG9	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462502	FamG10	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462503	FamG11	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462504	FamG12	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462505	FamG13	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462506	FamG14	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462507	FamG15	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462508	FamG16	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462509	FamG17	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462510	FamG18	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462511	FamG19	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462512	FamG20	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462513	FamG21	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462514	FamG22	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462515	FamG23	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462516	FamG24	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462517	FamG25	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462518	FamG26	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462519	FamG27	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462520	FamG28	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462521	FamG29	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462522	FamG30	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462523	FamG31	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462524	FamG32	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462525	FamG33	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462526	FamG34	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462527	FamG35	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462528	FamG36	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462529	FamG37	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462530	FamG38	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents, mosai mother	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462531	FamG39	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462532	FamG40	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462533	FamG41	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462534	FamG42	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462535	FamG43	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462536	FamG44	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462537	FamG45	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462538	FamG46	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462539	FamG47	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462540	FamN1	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	F	-	United States	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462541	FamN2	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462542	FamP1	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462543	FamP2	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462544	FamS1	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462545	FamS2	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462546	FamS3	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462547	FamS4	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462548	FamS5	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462549	FamS6	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462550	FamS7	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462551	FamS8	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462552	FamS9	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462553	FamS10	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462554	FamS11	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462555	FamS12	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462556	FamS13	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462557	FamS14	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462558	FamS15	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462559	FamS16	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462560	FamS17	PubMed: Greene 2024	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462561	FamS18	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462563	FamS20	PubMed: Greene 2024	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	1	Johan den Dunnen
00462564	FamS21	PubMed: Greene 2024	2-generation family, affected mother/daughter	F	-	United Kingdom (Great Britain)	-	-	-	-	-	HTX	-	-	RNU4-2	1	2	Johan den Dunnen

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Global Variome shared LOVD

CD19 (CD19 molecule)