Disease #02987 (FANCN (Fanconi anemia, complementation group N (FANCN)), OMIM:610832)

Official abbreviation	FANCN
Name	Fanconi anemia, complementation group N (FANCN)
OMIM ID	610832
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	65
Phenotype entries for this disease	47
Associated with 1 gene	PALB2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2015-12-08 23:59:30 +01:00 (CET)

Individuals

Legend

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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)
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

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Operator	Column type	Example	Matches
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\|	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
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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'

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65 entries on 1 page. Showing entries 1 - 65.

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
00022363	-	-	Patient's sample not available; mutation identified from parental sample.	?	?	Albania;Morocco	-	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Arleen D. Auerbach
00022364	-	-	-	?	?	Germany	-	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Arleen D. Auerbach
00022365	-	-	-	?	?	-	Hispanic;North American	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Arleen D. Auerbach
00022366	-	-	-	?	?	Germany	-	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Arleen D. Auerbach
00022367	-	-	Patient's sample not available; mutation identified from parental sample.	?	?	United States	North American;African	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Arleen D. Auerbach
00022368	-	-	Patient's sample not available; mutation identified from parental sample.	?	?	-	British	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Arleen D. Auerbach
00022369	-	-	-	?	?	United States	North American	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Arleen D. Auerbach
00022370	-	-	-	?	?	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Arleen D. Auerbach
00022371	-	-	-	?	?	Netherlands	-	-	-	-	-	FANCN	-	PALB2	PALB2	2	1	Johan de Winter
00050811	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050812	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050813	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050814	-	-	-	F	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050815	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050816	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050938	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050939	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050940	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050941	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050950	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050951	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050952	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050953	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050958	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050959	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050960	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050961	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050962	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050963	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050964	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00050965	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051021	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051022	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051023	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051024	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051027	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051028	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051060	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051061	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051062	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051069	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051070	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051071	-	-	-	-	-	-	-	-	-	-	-	cancer, breast, FANCN, PNCA3	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051081	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051082	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051083	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051263	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051268	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051364	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Marc Tischkowitz
00051389	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051390	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051391	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051392	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051393	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051394	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051395	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051396	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051397	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051398	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051399	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051400	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051401	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051402	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051403	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy
00051404	-	-	-	-	-	-	-	-	-	-	-	FANCN	-	PALB2	PALB2	1	1	Global Variome, with Curator vacancy

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How to query

Global Variome shared LOVD

APC (adenomatous polyposis coli)