All individuals with variants in gene CCDC40

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.

48 entries on 1 page. Showing entries 1 - 48.

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
00000212	PCD114	PubMed: Antony 2013	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD15	-	1	1	Hannah Mitchison
00000224	PCD8	PubMed: Antony 2013	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD15	-	1	2	Hannah Mitchison
00000225	PCD17	PubMed: Antony 2013	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F;M	-	Belgium	-	-	-	-	-	CILD15	-	1	2	Hannah Mitchison
00000226	PCD129	PubMed: Antony 2013	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	CILD15	-	1	2	Hannah Mitchison
00000227	PCD133	PubMed: Antony 2013	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	yes	Pakistan	-	-	-	-	-	CILD15	-	1	2	Hannah Mitchison
00000228	OP-559	PubMed: Antony 2013	-	-	-	Turkey	-	-	-	-	-	CILD15	-	1	1	Hannah Mitchison
00000229	OP561	PubMed: Antony 2013	-	-	-	Morocco	-	-	-	-	-	CILD15	-	1	1	Hannah Mitchison
00000230	KUL001	PubMed: Antony 2013	-	-	-	Belgium	-	-	-	-	-	CILD15	-	2	1	Hannah Mitchison
00000231	UNC130	PubMed: Antony 2013	-	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Hannah Mitchison
00000232	UNC533	PubMed: Antony 2013	2-generation family, 1 affected, unaffected parents	-	-	United States	-	-	-	-	-	CILD15	-	2	1	Hannah Mitchison
00000233	UNC299	PubMed: Antony 2013	2-generation family, 1 affected, unaffected parents	-	-	United States	-	-	-	-	-	CILD15	-	2	1	Hannah Mitchison
00000234	UNC660	2-generation family, 1 affected, unaffected parents	PubMed: Antony 2013	-	-	United States	-	-	-	-	-	CILD15	-	2	1	Hannah Mitchison
00003301	-	-	-	-	-	-	-	-	-	-	-	CILD	-	1	2	Christopher Watson
00003302	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00291868	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	38	Mohammed Faruq
00291869	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291870	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291871	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	49	Mohammed Faruq
00291872	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	38	Mohammed Faruq
00291873	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	18	Mohammed Faruq
00304605	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304606	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00358972	Case70559	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00433094	Pat70,1	PubMed: Stray-Pedersen 2017	-	M	-	United States	Asia	-	-	-	-	IMD	autoimmune disease	1	1	Johan den Dunnen
00451665	-	-	-	F	-	- (not applicable)	-	-	-	-	-	?	-	2	1	Marketa Wayhelova
00462321	Pat6	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	heterotaxy syndrome (isomerism)	2	1	Johan den Dunnen
00462322	Pat7	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	recurrent sinusitis	2	1	Johan den Dunnen
00462323	Pat8	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems; 2-generation family, 2 affected sibs, unaffected parents	-	-	United Arab Emirates	-	-	-	-	-	CILD	sinopulmonary infections (including chronic otorrhea) from early infancy with ultrastructural defects in the cilia (significant microtubular disorganizations, including distorted dynein arms, absent inner dynein arms)	1	2	Johan den Dunnen
00462342	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462343	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462344	-	PubMed: Alsamri 2021	analysis 66 patients with significant clinical respiratory problems	-	-	United Arab Emirates	-	-	-	-	-	CILD	-	1	1	Johan den Dunnen
00462459	PCD147	PubMed: Antony 2013	2-generation family, 1 affected, unaffected parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462460	PCD199	PubMed: Antony 2013	2-generation family, 1 affected, unaffected parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462462	PCD216	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462463	OP-560	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Belgium	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462464	UNC120	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462465	UNC122	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462466	UNC176	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462467	UNC188	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462468	UNC281	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462469	UNC336	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462470	UNC337	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462471	UNC455	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462472	UNC507	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462473	UNC553	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462474	UNC609	PubMed: Antony 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	United States	-	-	-	-	-	CILD15	-	1	1	Johan den Dunnen
00462475	UNC175	PubMed: Antony 2013	-	-	-	United States	-	-	-	-	-	CILD15	-	2	1	Johan den Dunnen
00466031	200C	-	-	M	-	Hong Kong	Chinese	-	-	-	-	ADHD	-	1	1	Larry Baum

Legend

How to query

Global Variome shared LOVD

CCDC40 (coiled-coil domain containing 40)