All individuals with variants in gene ARSE

93 entries on 1 page. Showing entries 1 - 93.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 13 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 15 1 Yu Sun
00114708 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114709 - - Female carrier, mother of 0047 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114710 - - - M - - - - 0 - - CPDX-1 Respiratory insufficiency and feeding problems at birth. Nasal hypoplasia, single palmar crease and small tufted distal phalanges.; CPDX1 1 1 Claudia Matos-Miranda
00114711 - - - M - - - - 0 - - CPDX-1 Midface hypoplasia, brachytelephalangy; CPDX1 1 1 Claudia Matos-Miranda
00114712 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114713 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114714 - - Female carrier, mother of 0071 F - - - - 0 - - ? - 1 1 Gene Dx
00114715 - - Female carrier, sister of 0072 F - - - - 0 - - ? - 1 1 Gene Dx
00114716 - - Female carrier, sister of 0071 F - - - - 0 - - ? - 1 1 Gene Dx
00114717 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114718 - - Female carrier, mother of 0075 F - - - - 0 - - ? - 1 1 Gene Dx
00114719 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114720 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114721 - - - M - - - - 0 - - CPDX-1 Microcephaly, flat nose, short stature, puncta in the feet, hands and sacrum; CPDX1 1 1 Claudia Matos-Miranda
00114722 - - Female carrier, mother of 0001 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114723 - - Female carrier, sister of 0001 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114724 - - Female carrier, sister of 0001 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114725 - - Female carrier, sister of 0001 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114726 - - - - - - - - 0 - - ? in vitro 1 1 Claudia Matos-Miranda
00114727 - - - - - - - - 0 - - ? - 9 1 Claudia Matos-Miranda
00114728 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114729 - - brother of 0036 M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114730 - - female carrier, mother of 0036 M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114731 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114732 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114733 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114734 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114735 - - Female carrier, mother of 0055 F - - - - 0 - - ? - 1 1 Gene Dx
00114736 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, brachytelephalang; CPDX1 1 1 Claudia Matos-Miranda
00114737 - - - - - - - - 0 - - ? in vitro 1 1 Claudia Matos-Miranda
00114738 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114739 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, brachytelephalangy; CPDX1 1 1 Claudia Matos-Miranda
00114740 - - - M - - - - 0 - - CPDX-1 No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met 1 1 Claudia Matos-Miranda
00114741 - - - - - - - - 0 - - ? in vitro 1 1 Claudia Matos-Miranda
00114742 - - - M - - - - 0 - - CPDX-1 No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met 1 1 Claudia Matos-Miranda
00114743 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114744 - - - M - - - - 0 - - CPDX-1 Flat nose, brachytelephalangic chondrodysplasia, left school at 9 yo due to poor school perfomance. Maternal grandfather is positive for the same mutation but he is asymptomatic); CPDX1 1 1 Claudia Matos-Miranda
00114745 - - maternal grandfather of 0007 M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114746 - - Female carrier, mother of 0007 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114747 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114748 - - Female carrier, mother of 0040 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114749 - - - M - - - - 0 - - CPDX-1 No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met ; CPDX1 1 1 Claudia Matos-Miranda
00114750 - - - - - - - - 0 - - ? in vitro 1 1 Claudia Matos-Miranda
00114751 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114752 19377244-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX 1 4 Lucy Raymond
00114753 19377245-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX 1 1 Lucy Raymond
00114754 - - - M - - - - 0 - - CPDX-1 No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met ; CPDX1 1 1 Claudia Matos-Miranda
00114755 - - - - - - - - 0 - - ? in vitro 1 1 Claudia Matos-Miranda
00114756 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114757 - - Female carrier, mother of 0042 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114758 19377246-Pat? PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX MRX 1 6 Lucy Raymond
00114759 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114760 - - maternal grandfather of 0050 M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114761 - - Female carrier, mother of 0050 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114762 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114763 - - - M - - - - 0 - - CPDX-1 Flat nose, brachytelephalangic chondrodysplasia ; CPDX1 1 1 Claudia Matos-Miranda
00114764 - - Female carrier, mother of 0010 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114765 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114766 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114767 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114768 - - brother of 0061 M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114769 - - Female carrier, mother of 0061 F - - - - 0 - - ? - 1 1 Gene Dx
00114770 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114771 - - Female carrier, mother of 0064 F - - - - 0 - - ? - 1 1 Gene Dx
00114772 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114773 - - Female carrier, mother of 0044 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114774 - - - M - - - - 0 - - CPDX-1 Calcification of larynx, joint contractures; CPDX1 1 1 Claudia Matos-Miranda
00114775 - - Female carrier, mother of 0066 F - - - - 0 - - ? - 1 1 Gene Dx
00114776 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114777 - - brother of 0066 M - - - - 0 - - ? - 1 1 Gene Dx
00114778 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114779 - - - M - - - - 0 - - CPDX-1 Midface hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery ; CPDX1 1 1 Claudia Matos-Miranda
00114780 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114781 - - brother of 0034 M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114782 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Gene Dx
00114783 - - - - - - - - 0 - - ? in vitro 1 1 Claudia Matos-Miranda
00114784 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114785 - - - - - - - - 0 - - ? in vitro 1 1 Claudia Matos-Miranda
00114786 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery and deafness; CPDX1 1 1 Claudia Matos-Miranda
00114787 - - - M - - - - 0 - - CPDX-1 Neonatal death, facial dysmorphisms, brachytelephalangy, cararact, disseminated intravascular coagulopathy ; CPDX1 1 1 Claudia Matos-Miranda
00114788 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114789 - - - - - - - - 0 - - ? in vitro 1 1 Claudia Matos-Miranda
00114790 - - - M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114791 - - maternal uncle of 0012 M - - - - 0 - - CPDX-1 CPDX1 1 1 Claudia Matos-Miranda
00114792 - - Female carrier, mother of 0012 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114793 - - Female carrier, sister of 0012 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114794 - - Female carrier, maternal grandmother of 0012 F - - - - 0 - - ? - 1 1 Claudia Matos-Miranda
00114795 - - - M - - - - 0 - - CPDX-1 Aborted fetus of 26 weeks with severe nasal hypoplasia, short hands and fingers. X-ray diffuse calcifications of epiphyses, spine and larynx. Absent fusion of the three primitive nasal stalks ; CPDX1 1 1 Claudia Matos-Miranda
00114796 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, flat midface, brachytelephalangy, punctate calcifications at the X-ray skeletal survery. Multiple coronal clefts of vertebrae. Laryngeal calcifications ; CPDX1 1 1 Claudia Matos-Miranda
00114797 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, diffuse calcifications of trachea and bronchi. Recurrent and severe episodes of respiratory insufficiency ; CPDX1 1 1 Claudia Matos-Miranda
00114798 - - - M - - - - 0 - - CPDX-1 Midface hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery ; CPDX1 1 1 Claudia Matos-Miranda
Legend