All individuals with variants in gene SOST

21 entries on 1 page. Showing entries 1 - 21.
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00107717 - PubMed: Beighton 1976, PubMed: Beighton 1979 22 South African families, 29 affecteds/33 unaffected carriers - - South Africa Afrikaner - 0 - - SOST distortion facies/mandibular protrusion, entrapment cranial nerves causing deafness/facial palsy; radiography-skeletal hyperostosis/sclerosis (esp. calvarium/base of skull) 1 29 Johan den Dunnen
00107718 - PubMed: Beighton 1976, PubMed: Beighton 1979 22 South African families, 33 unaffected heterozygous carriers - - South Africa Afrikaner - 0 - - ? distortion facies/mandibular protrusion, entrapment cranial nerves causing deafness/facial palsy; radiography-skeletal hyperostosis/sclerosis (esp. calvarium/base of skull) 1 33 Johan den Dunnen
00107719 - PubMed: Tacconi 1998 - - - Senegal - - 0 - - SOST - 3 1 Johan den Dunnen
00107720 - PubMed: Tacconi 1998 - - - Senegal - - 0 - - SOST - 1 1 Johan den Dunnen
00107721 - PubMed: Tacconi 1998 - - - Senegal - - 0 - - ? - 2 1 Johan den Dunnen
00107722 - PubMed: Balemans 1999 - - yes Brazil - - 0 - - SOST - 2 1 Johan den Dunnen
00107723 - PubMed: Balemans 1999 - - yes United States - - 0 - - SOST - 2 1 Johan den Dunnen
00107724 - PubMed: Balemans 2001 - - - Senegal - - 0 - - SOST - 2 1 Johan den Dunnen
00107725 - PubMed: Van Hul 1998 extended 10-generation family, 13 affecteds (6F, 7M) F;M - Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata) 1 13 Johan den Dunnen
00107726 11836356-Pat1 PubMed: Balemans 2002 father maternal grandmother and father paternal grandmother were brothers M yes Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata), see paper; ... 1 1 Johan den Dunnen
00107727 11836356-Pat2 PubMed: Balemans 2002 2-generation family, affected sister/brother, Pat2 F yes Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata) 1 2 Johan den Dunnen
00107728 11836356-Pat3 PubMed: Balemans 2002 Pat3 M yes Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata) 1 1 Johan den Dunnen
00107729 - - - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00107730 - PubMed: Balemans 2005 brother of 15869924-P2 M - Germany - - 0 - - SOST - 2 1 Johan den Dunnen
00107731 - PubMed: Balemans 2005 sister of 15869924-P1 F - Germany - - 0 - - SOST - 2 1 Johan den Dunnen
00107732 - PubMed: Van Hul 1998 extended Dutch family (common acestor 9 generations ago) - - Netherlands - - 0 - - VBCH van Buchem disease (hyperostosis corticalis generalisata) 2 15 Johan den Dunnen
00107733 - PubMed: Kim 2008 said unrelated to ther cases - yes Brazil - - 0 - - SOST - 2 1 Johan den Dunnen
00107734 - PubMed: Kim 2008 said unrelated to ther cases - - Brazil - - 0 - - SOST - 2 1 Johan den Dunnen
00291740 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00331568 16DG0974 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - skeletal dysplasia Osteosclerosis, Facial palsy, Frontal bossing, Mandibular prognathia 1 1 LOVD
00387929 FamPatIV5 PubMed: Fayez 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes (Egypt) Africa - 0 - - SOST1 Visual impairment (HP:0000505), Hearing impairment (HP:0000365), Abnormal facial shape (HP:0001999), Increased arm span (HP:0012771), Macrocephaly (HP:0000256), Delayed speech and language development (HP:0000750), Radial deviation of the hand or of fingers of the hand (HP:0009485), Camptodactyly of 2nd-5th fingers (HP:0001215), Clinodactyly (HP:0030084), Cranial hyperostosis (HP:0004437), 1 2 Alaaeldin Fayez
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