Global Variome shared LOVD
DUX4 (double homeobox 4)
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curator:
Richard Lemmers
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All individuals with variants in gene DUX4
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.
169 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00028967
-
PubMed: van den Boogaard 2015
SB_Fse(9%), 4qA[13]
M
no
United States
-
-
-
-
-
FSHD2
-
4
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
3
2
Richard Lemmers
00028969
-
PubMed: van den Boogaard 2015
SB_Fse(62%), no 4qA, 2-generation family (Rf1414), unaffected
F
no
Netherlands
-
-
-
-
-
Healthy/Control
-
2
1
Richard Lemmers
00028970
-
PubMed: van den Boogaard 2015
SB_Fse(20%), no 4qA, 3-generation family (Rf385), unaffected
M
no
Spain
-
-
-
-
-
Healthy/Control
di-genic inheritance
2
4
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
3
1
Richard Lemmers
00028972
-
PubMed: van den Boogaard 2015
SB_Fse(1%), 4qA[27], 3-generation family (Rf385), phenotype unknown
F
no
Spain
-
-
-
-
-
?
-
3
1
Richard Lemmers
00028973
-
PubMed: van den Boogaard 2015
SB_Fse(10%), 4qA[22], 3-generation family (Rf385), unaffected
F
no
Spain
-
-
-
-
-
Healthy/Control
di-genic inheritance
3
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
3
3
Richard Lemmers
00037493
-
PubMed: Winston2014
SB_Fse(53%), 4qA
F
no
United Kingdom (Great Britain)
-
-
-
-
-
FSHDlike
di-genic inheritance
1
1
Richard Lemmers
00037494
-
Smith, poster ASHG2014
BSS_DR1(10%)
F
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
2
Richard Lemmers
00037495
-
PubMed: Lemmers 2015
SB_Fse(5%)
-
-
United States
-
-
-
-
-
FSHD2
di-genic inheritance
3
1
Richard Lemmers
00037496
-
PubMed: Lemmers 2015
SB_Fse(16%), 4qA[12]
F
-
United States
-
-
-
-
-
FSHD2
di-genic inheritance
3
5
Richard Lemmers
00037497
-
PubMed: Lemmers 2015
SB_Fse(14%), 4qA[13]
M
-
United States
-
-
-
-
-
FSHD2
di-genic inheritance
3
2
Richard Lemmers
00037499
-
Winder, US
SB_Fse (19%)
M
-
United States
-
-
-
-
-
FSHD2
di-genic inheritance
1
1
Richard Lemmers
00037500
-
Smith, poster ASHG2014
BSS_DR1(37%)
-
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
1
Richard Lemmers
00037501
-
Smith, poster ASHG2014
BSS_DR1(23%)
-
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
1
Richard Lemmers
00037502
-
Smith, poster ASHG2014
BSS_DR1(23%)
-
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
1
Richard Lemmers
00037503
-
Smith, poster ASHG2014
BSS_DR1(28%)
-
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
1
Richard Lemmers
00037504
-
Smith, poster ASHG2014
BSS_DR1(29%)
F
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
1
Richard Lemmers
00037505
-
Smith, poster ASHG2014
BSS_DR1(17%)
-
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
1
Richard Lemmers
00037506
-
Smith, poster ASHG2014
BSS_DR1(22%)
-
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
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
3
1
Richard Lemmers
00037508
-
Smith, poster ASHG2014
BSS_DR1(24%)
M
-
United Kingdom (Great Britain)
-
-
-
-
-
FSHD2
di-genic inheritance
1
1
Richard Lemmers
00037509
-
PubMed: Lemmers 2015
SB_Fse(12%), 4qA[35]
F
-
United States
-
-
-
-
-
Healthy/Control
di-genic inheritance
3
1
Richard Lemmers
00037510
-
PubMed: Lemmers 2015
SB_Fse(13%), 4qA[11]
M
-
United States
-
-
-
-
-
FSHD2
di-genic inheritance
3
1
Richard Lemmers
00037511
-
PubMed: Lemmers 2015
SB_Fse(12%), 4qA[11]
M
-
United States
-
-
-
-
-
FSHD2
di-genic inheritance
3
1
Richard Lemmers
00037512
-
PubMed: Lemmers 2015
SB_Fse(16%), 4qA[11]
M
-
United States
-
-
-
-
-
FSHD2
di-genic inheritance
3
1
Richard Lemmers
00037513
-
PubMed: Lemmers 2015
SB_Fse(20%), 4qA[13]
F
-
United States
-
-
-
-
-
FSHD2
di-genic inheritance
3
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
3
1
Richard Lemmers
00037594
-
-
2-generation family, unaffected father
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037595
-
-
2-generation family, unaffected mother
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037596
-
-
2-generation family, unaffected sister
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
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
3
1
Richard Lemmers
00037599
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
2-generation family, affected daughter
F
no
-
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
00037600
-
-
2-generation family, unaffected mother
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037601
-
-
2-generation family, unaffected sister
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
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
3
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
3
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
3
1
Richard Lemmers
00037606
-
-
2-generation family, unaffected father
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037607
-
-
2-generation family, unaffected mother
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
1
Richard Lemmers
00037609
-
-
2-generation family, unaffected father
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037610
-
-
2-generation family, unaffected mother
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037611
-
-
2-generation family, unaffected sister
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037612
-
-
2-generation family, unaffected sister
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
1
Richard Lemmers
00037614
-
-
2-generation family, unaffected half-brother
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
1
Richard Lemmers
00037616
-
-
2-generation family, unaffected brother
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037617
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
SB_Fse(9%), no permissive alleles, 2-generation family, half-brother patient
M
no
France
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
2
1
Richard Lemmers
00037618
-
-
2-generation family, unaffected mother
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037619
-
-
2-generation family, unaffected brother
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
1
Richard Lemmers
00037621
-
-
2-generation family, unaffected brother
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
1
1
Richard Lemmers
00037623
-
-
2-generation family, unaffected father
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037624
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
SB_Fse(17%), 4qA[50], 2-generation family, mother of affected son/daughter
F
no
Netherlands
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
3
1
Richard Lemmers
00037625
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
2-generation family, affected son
M
no
-
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
00037626
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
2-generation family, affected daughter
F
no
-
-
-
-
-
-
FSHD2
digenic inheritance
3
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
3
1
Richard Lemmers
00037628
-
-
2-generation family, unaffected father
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037629
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
SB_Fse(7%), 4qA[11], 2-generation family, mother patient
F
no
Spain
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
3
1
Richard Lemmers
00037630
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
2-generation family, affected daughter
F
no
-
-
-
-
-
-
FSHD2
digenic inheritance
2
1
Richard Lemmers
00037631
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
probably benign variant, SB_Fse(16%), no permissive alleles, 2-generation family, father of patient
M
no
United States
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
2
1
Richard Lemmers
00037632
-
-
2-generation family, unaffected mother
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037633
-
-
2-generation family, unaffected son
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
1
Richard Lemmers
00037635
-
-
2-generation family, unaffected son
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037636
-
-
2-generation family, unaffected son
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037637
-
-
2-generation family, unaffected grandson
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037638
-
-
2-generation family, unaffected grandson
M
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037639
-
-
4-generation family, affected niece
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
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
3
1
Richard Lemmers
00037642
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
4-generation family, affected granddaughter
F
no
United States
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
00037643
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
SB_Fse(12%), 4qA[89], 2-generation family, father FSHD-2 patient
M
no
Netherlands
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
3
1
Richard Lemmers
00037644
-
-
2-generation family, unaffected mother
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037645
-
-
2-generation family, unaffected daughter
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
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
3
1
Richard Lemmers
00037647
-
-
2-generation family, unaffected daughter in law
F
no
-
-
-
-
-
-
Healthy/Control
digenic inheritance
1
1
Richard Lemmers
00037648
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
SB_Fse(11%), 4qA[18], 2-generation family, sister patient
F
no
Netherlands
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
3
1
Richard Lemmers
00037649
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
SB_Fse(19%), 4qA[18], 2-generation family, daughter patient
F
no
Netherlands
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
3
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
3
1
Richard Lemmers
00037651
-
PubMed: Lemmers 2012
,
PubMed: Lemmers 2015
SB_Fse(21%), 4qA[20], 2-generation family, son patient
M
no
Netherlands
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
3
1
Richard Lemmers
00037652
-
Winder, US
SB_Fse (13%)
F
-
United States
-
-
-
-
-
FSHD2
digenic inheritance
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
3
1
Richard Lemmers
00037655
-
PubMed: Sacconi 2013
SB_Fse(18%), 4qA[9], 3-generation family, affected father affected son
M
no
France
-
-
-
-
-
FSHD
dystrophy, muscular, facioscapulohumeral, type 1 and 2 (FSHD-1 and 2); digenic inheritance
3
1
Richard Lemmers
00037656
-
PubMed: Sacconi 2013
SB_Fse(11%), 4qA[9], 3-generation family, affected son
M
no
France
-
-
-
-
-
FSHD2
digenic inheritance
3
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
3
1
Richard Lemmers
00037658
-
PubMed: Sacconi 2013
SB_Fse(10%), 4qA[62], 2-generation family, affected daughter
F
no
France
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
00037659
-
PubMed: Sacconi 2013
SB_Fse(9%), 4qA[9], 2-generation family, affected son
M
no
France
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
00037660
-
PubMed: Lemmers 2015
SB_Fse(24%), ? 4q, 2-generation family, affected daughter
F
no
Netherlands
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
1
1
Richard Lemmers
00037661
-
PubMed: Lemmers 2015
SB_Fse(13%), 4qA[40]
F
no
France
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
00037662
-
PubMed: Lemmers 2015
SB_Fse(13%), 4qA[68]
F
no
France
-
-
-
-
-
Healthy/Control
unaffected, digenic inheritance
3
1
Richard Lemmers
00037663
-
PubMed: Lemmers 2015
SB_Fse(15%), 4qA[40]
F
no
France
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
00037664
-
PubMed: Lemmers 2015
SB_Fse(27%), 4qA[36]
M
no
France
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
00037665
-
PubMed: Lemmers 2015
SB_Fse(22%), 4qA[12]
M
no
Germany
-
-
-
-
-
FSHD2
digenic inheritance
3
1
Richard Lemmers
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