Disease #00083 (FSHD2 (dystrophy, muscular, facioscapulohumeral, type 2 (FSHD-2)), OMIM:158901)

Official abbreviation	FSHD2
Name	dystrophy, muscular, facioscapulohumeral, type 2 (FSHD-2)
OMIM ID	158901
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	146
Phenotype entries for this disease	118
Associated with 3 genes	DUX4, LRIF1, SMCHD1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2012-11-12 14:51:40 +01:00 (CET)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
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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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
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^	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'
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!=""	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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>=	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'

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146 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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
00028967	-	PubMed: van den Boogaard 2015	SB_Fse(9%), 4qA[13]	M	no	United States	-	-	-	-	-	FSHD2	-	DUX4, SMCHD1	DUX4, SMCHD1	6	1	Richard Lemmers
00028968	-	PubMed: van den Boogaard 2015	SB_Fse(6%), 4qA[14], 2-generation family (Rf1414), affected	M	no	Netherlands	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	5	2	Richard Lemmers
00028971	-	PubMed: van den Boogaard 2015	SB_Fse(5%), 4qA[27], 3-generation family (Rf385), affected	M	no	Spain	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	5	1	Richard Lemmers
00037492	-	PubMed: Winston2014	SB_Fse(31%), 4qA[10], 3-generation family, 3 affecteds (F, 2M)	F	no	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance; 24y Erb's juvenile dystrophy; 27y perroneal muscualr dystrophy; 29y LGMD; >29y aldult onset FSHD	DUX4, SMCHD1	DUX4, SMCHD1	4	3	Richard Lemmers
00037494	-	Smith, poster ASHG2014	BSS_DR1(10%)	F	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	2	Richard Lemmers
00037495	-	PubMed: Lemmers 2015	SB_Fse(5%)	-	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037496	-	PubMed: Lemmers 2015	SB_Fse(16%), 4qA[12]	F	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	5	Richard Lemmers
00037497	-	PubMed: Lemmers 2015	SB_Fse(14%), 4qA[13]	M	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	2	Richard Lemmers
00037498	-	PubMed: Mitsuhashi 2013	-	-	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	SMCHD1	1	1	Richard Lemmers
00037499	-	Winder, US	SB_Fse (19%)	M	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037500	-	Smith, poster ASHG2014	BSS_DR1(37%)	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	3	1	Richard Lemmers
00037501	-	Smith, poster ASHG2014	BSS_DR1(23%)	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037502	-	Smith, poster ASHG2014	BSS_DR1(23%)	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037503	-	Smith, poster ASHG2014	BSS_DR1(28%)	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037504	-	Smith, poster ASHG2014	BSS_DR1(29%)	F	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037505	-	Smith, poster ASHG2014	BSS_DR1(17%)	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037506	-	Smith, poster ASHG2014	BSS_DR1(22%)	-	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037507	-	PubMed: Winston2014	SB_Fse(30%), 4qA, son of FamAPatII2	M	no	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance; late onset FSHD	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037508	-	Smith, poster ASHG2014	BSS_DR1(24%)	M	-	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037510	-	PubMed: Lemmers 2015	SB_Fse(13%), 4qA[11]	M	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037511	-	PubMed: Lemmers 2015	SB_Fse(12%), 4qA[11]	M	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037512	-	PubMed: Lemmers 2015	SB_Fse(16%), 4qA[11]	M	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037513	-	PubMed: Lemmers 2015	SB_Fse(20%), 4qA[13]	F	-	United States	-	-	-	-	-	FSHD2	di-genic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037519	-	PubMed: Winston2014	SB_Fse(17%), 4qA[10], brother FamAPatII2	M	no	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	digenic inheritance; late onset FSHD	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037597	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(7%), 4qA[14], 2-generation family, affected son	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037598	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(15%), 4qA[71], 2-generation family, affected mother	F	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037599	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	2-generation family, affected daughter	F	no	-	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037602	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(12%), 4qA[26], 2-generation family, affected son	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037603	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(17%), 4qA[16], 2-generation family, affected father	M	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037604	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(16%), 4qA[16], 2-generation family, affected son	M	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037605	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(24%), 4qA[19], 2-generation family, affected daughter	F	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037608	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(10%), 4qA[14], 2-generation family, affected son	M	no	Italy	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037613	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(7%), 4qA[12], 2-generation family, affected son	M	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037615	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(9%), 4qA[18], 2-generation family, affected son	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037620	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(9%), 4qA[14], 2-generation family, affected son	M	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037622	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(5%), 4qA[12], 2-generation family, affected daughter	F	no	-	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037625	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	2-generation family, affected son	M	no	-	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037626	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	2-generation family, affected daughter	F	no	-	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037627	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(11%), 4qA[12], 2-generation family, affected daughter	F	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037630	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	2-generation family, affected daughter	F	no	-	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	3	1	Richard Lemmers
00037634	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	probably benign variant, SB_Fse(15%), 4qA[13], 2-generation family, affected son	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037640	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(9%), 4qA[14], 4-generation family, affected mother	F	no	-	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037641	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(16%), 4qA[14], 4-generation family, affected son	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037642	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	4-generation family, affected granddaughter	F	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037646	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(20%), 4qA[18], 2-generation family, affected son	M	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037650	-	PubMed: Lemmers 2012, PubMed: Lemmers 2015	SB_Fse(19%), 4qA[18], 2-generation family, affected grandson	M	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037652	-	Winder, US	SB_Fse (13%)	F	-	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Tom Winder
00037653	-	Winder, US	ND	M	-	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	SMCHD1	1	1	Tom Winder
00037654	-	PubMed: Sacconi 2013	SB_Fse(24%), 4qA[50], 3-generation family, affected mother affcted son	F	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037656	-	PubMed: Sacconi 2013	SB_Fse(11%), 4qA[9], 3-generation family, affected son	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037657	-	PubMed: Sacconi 2013	SB_Fse(8%), 4qA[9], 2-generation family, affected father affected son/daughter	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037658	-	PubMed: Sacconi 2013	SB_Fse(10%), 4qA[62], 2-generation family, affected daughter	F	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037659	-	PubMed: Sacconi 2013	SB_Fse(9%), 4qA[9], 2-generation family, affected son	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037661	-	PubMed: Lemmers 2015	SB_Fse(13%), 4qA[40]	F	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037663	-	PubMed: Lemmers 2015	SB_Fse(15%), 4qA[40]	F	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037664	-	PubMed: Lemmers 2015	SB_Fse(27%), 4qA[36]	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037665	-	PubMed: Lemmers 2015	SB_Fse(22%), 4qA[12]	M	no	Germany	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037666	-	PubMed: Lemmers 2015	SB_Fse(7%), 4qA[12]	M	no	Canada	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037667	-	PubMed: Lemmers 2015	SB_Fse(12%), 4qA[12]	F	no	Canada	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037668	-	PubMed: Lemmers 2015	SB_Fse(5%), 4qA[14]	F	no	Germany	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037669	-	PubMed: Lemmers 2015	SB_Fse(12%), 4qA[13]	M	no	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037670	-	PubMed: Lemmers 2015	SB_Fse(11%), 4qA[13]	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037671	-	PubMed: Lemmers 2015	SB_Fse(16%), 4qA[14]	F	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037672	-	PubMed: Lemmers 2015	SB_Fse(8%), 4qA[13]	M	no	Canada	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037673	-	PubMed: Lemmers 2015	SB_Fse(2%), 4qA[12]	F	no	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037674	-	PubMed: Lemmers 2015	SB_Fse(4%), 4qA[14]	F	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037675	-	PubMed: Lemmers 2015	SB_Fse(14%), 4qA[14]	M	no	Spain	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037676	-	PubMed: Lemmers 2015	SB_Fse(12%), 4qA[19]	M	no	Spain	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037677	-	PubMed: Lemmers 2015	SB_Fse(1%), 4qA[14]	F	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037679	-	PubMed: Lemmers 2015	SB_Fse(19%)	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037680	-	PubMed: Lemmers 2015	SB_Fse(5%), 4qA[12]	F	no	Switzerland	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037681	-	PubMed: Lemmers 2015	SB_Fse(15%), 4qA[14]	M	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037682	-	PubMed: Lemmers 2015	SB_Fse(7%), 4qA[17]	M	no	Bulgaria	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037683	-	PubMed: Lemmers 2015	SB_Fse(9%), 4qA[15]	M	no	Bulgaria	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037684	-	PubMed: Lemmers 2015	SB_Fse(16%), 4qA[14]	F	no	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037685	-	PubMed: Lemmers 2015	SB_Fse(11%), 4qA[11]	M	no	Slovenia	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037686	-	PubMed: Lemmers 2015	SB_Fse(4%), 4qA[29]	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037687	-	PubMed: Lemmers 2015	SB_Fse(15%), 4qA[13]	M	no	United Kingdom (Great Britain)	Scotland	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037689	-	PubMed: Lemmers 2015	SB_Fse(7%), 4qA[12]	F	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037690	-	PubMed: Lemmers 2015	SB_Fse(9%), 4qA[12]	F	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037691	-	PubMed: Lemmers 2015	SB_Fse(8%), 4qA[13]	F	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037692	-	PubMed: Lemmers 2015	SB_Fse(9%), ? 4q	M	no	United Kingdom (Great Britain)	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	2	1	Richard Lemmers
00037693	-	PubMed: Lemmers 2015	SB_Fse(6%), 4qA[19]	F	no	Denmark	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037694	-	PubMed: Lemmers 2015	SB_Fse(11%), 4qA[14]	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037695	-	PubMed: Lemmers 2015	SB_Fse(11%), 4qA[14]	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037696	-	PubMed: Lemmers 2015	SB_Fse(16%), 4qA[47]	F	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037697	-	PubMed: Lemmers 2015	SB_Fse(7%), 4qA[14]	M	no	Denmark	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037698	-	PubMed: Lemmers 2015	SB_Fse(4%), 4qA[12]	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037699	-	PubMed: Lemmers 2015	SB_Fse(20%), 4qA[12]	M	no	United States	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037700	-	PubMed: Lemmers 2015	SB_Fse(16%), 4qA[12]	F	no	Korea, South (Republic)	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037701	-	PubMed: Lemmers 2015	SB_Fse(10%), 4qA[14]	M	no	Germany	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037702	-	PubMed: Lemmers 2015	SB_Fse(12%), 4qA[12]	F	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037703	-	PubMed: Lemmers 2015	SB_Fse(12%), no permissive alleles	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	3	1	Richard Lemmers
00037704	-	PubMed: Lemmers 2015	SB_Fse(13%), 4qA[16]	F	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037706	-	PubMed: Lemmers 2015	SB_Fse(10%), 4qA[11]	M	no	France	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037707	-	PubMed: Lemmers 2015	SB_Fse(24%), 4qA[18]	M	no	Netherlands	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037708	-	PubMed: Lemmers 2015	SB_Fse(9%), 4qA[11]	F	no	Spain	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037709	-	PubMed: Lemmers 2015	SB_Fse(9%), 4qA[11]	M	no	Spain	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037710	-	PubMed: Lemmers 2015	SB_Fse(10%), 4qA[11]	F	no	Spain	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers
00037711	-	PubMed: Lemmers 2015	SB_Fse(12%), 4qA[11]	F	no	Spain	-	-	-	-	-	FSHD2	digenic inheritance	DUX4, SMCHD1	DUX4, SMCHD1	4	1	Richard Lemmers

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Global Variome shared LOVD

LIG3 (ligase III, DNA, ATP-dependent)