All individuals with variants in gene C1orf127

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.

21 entries on 1 page. Showing entries 1 - 21.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00390029	16	PubMed: Ruberto 2020	-	?	-	Italy	-	-	-	-	-	retinal disease	Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus	1	1	LOVD
00462316	Pat1	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	heterotaxy, asplenia, midline liver, pulmonary stenosis, interrupted inferior vena cava, bilateral superior vena cava, and right aortic arch	1	1	Johan den Dunnen
00462317	Pat2	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems; 2-generation family, 1 affected, unaffected heterozygous EP400 carrier parents	-	-	United Arab Emirates	-	-	-	-	-	CILD	dextrocardia, pulmonary stenosis, respiratory infections; family members with congenital heart anomalies	1	1	Johan den Dunnen
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	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;	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;	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)	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;	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	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	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;	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;	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	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	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;	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	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;	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;	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	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	1	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	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

C1orf127 (chromosome 1 open reading frame 127)