All individuals with variants in gene DUX4

169 entries on 2 pages. Showing entries 1 - 100.
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Gender     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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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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