All individuals with variants in gene CRTAP

38 entries on 1 page. Showing entries 1 - 38.
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00081014 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - OI7 Osteogenesis imperfecta, type VII (OMIM:610682) 1 1 Daniel Trujillano
00154406 25604815- PubMed: Balasubramanian 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousin) F - United Kingdom (Great Britain) Pakistan - - - - CLCRP see paper; ... 1 1 Johan den Dunnen
00327454 B39 PubMed: Demir 2021 analysis 43 OI patients F - Turkey - - - - - OI - 1 1 Johan den Dunnen
00331387 11DG1959 PubMed: Maddirevula 2018 family M yes - Arab - - - - skeletal dysplasia Skeletal dysplasia, Wide anterior fontanel, Micrognathia, Hand polydactyly, Narrow chest,Yes 1 1 LOVD
00331388 11DG2122 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Osteopenia , Recurrent fractures 1 1 LOVD
00373295 Family 3 PubMed: Caparrós-Martin 2013 - - - Egypt - - - - - OI - 1 1 Victor L Ruiz-Perez
00373296 Infant 3 PubMed: Barnes 2006 This patient has been reported subsequently as Proband 1 by PubMed: Chang et al., 2010. However, the mutation descriptions in that publication do not conform to HGVS guidelines. - - Germany - - - - - OI - 2 1 Raymond Dalgleish
00373297 - PubMed: van Dijk 2009 This patient belongs to family 1 and is VI:5 in the pedigree. The variant detected in this patient has been shown by {PMID25641760:Mathijssen et al., 2015} to be a common cause of OI types IIB and III in a genetically isolated Dutch community. - - - white - - - - OI - 1 1 Gerard Pals
00373298 - - - - - Pakistan - - - - - OI - 1 1 Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
00373299 Proband 1 PubMed: Baldridge 2008 This patient is referred to as Family 43 in {PMID21239989:Pyott et al., 2011}. - - Lebanon - - - - - OI - 1 1 Peter Byers
00373300 - PubMed: van Dijk 2009 - - - - white - - - - OI - 3 1 Gerard Pals
00373301 - PubMed: Valli 2012 - - - Egypt - - - - - OI - 1 1 Raymond Dalgleish
00373302 Family 3 PubMed: Stephen 2015 The patient has an affected twin sister & elder sister and the parents are consanguineous and confirmed to be heterozygous for the variant. - - India - - - - - OI - 1 1 Raymond Dalgleish
00373303 - PubMed: van Dijk 2009 The patient is individual II:1 in family 3. - - - white - - - - OI - 2 1 Gerard Pals
00373304 Proband 3 PubMed: Baldridge 2008 - - - Iran - - - - - OI - 1 1 Peter Byers
00373305 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI - 2 1 Xiuli Zhao
00373306 Proband 2 PubMed: Baldridge 2008 - - - - white - - - - OI - 2 1 Peter Byers
00373307 - PubMed: van Dijk 2009 The patient is from family 2. - - Morocco - - - - - OI - 1 1 Gerard Pals
00373308 No. 89 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - OI - 1 1 Raymond Dalgleish
00373309 Infant 1 PubMed: Barnes 2006 This patient has been reported subsequently as Proband 3 by PubMed: Chang et al., 2010. - - Pakistan - - - - - OI - 1 1 Raymond Dalgleish
00373310 C3 PubMed: Bodian 2009 This patient is referred to as Family 44 in {PMID21239989:Pyott et al., 2011}. - - Iceland - - - - - OI - 1 1 Peter Byers
00373311 - PubMed: van Dijk 2009 The patient is from family 5.; The patient was subsequently presented in Figure 6B of {PMID22570641:van Dijk et al., 2011} and described as having OI type III. - - - white - - - - OI - 1 1 Gerard Pals
00373312 - - - - - - - - - - - OI - 1 1 Margherita Maioli
00373313 - PubMed: Morello 2006 The family in which this mutation was detected has previously been described by PubMed: Ward et al., 2002. Further studies on the affected children are presented by PubMed: Fratzl-Zelman et al., 2009. This patient is described as Individual T1 by {PMID25086671:Rauch et al., 2014}. - - Canada First Nations Canadian - - - - OI - 1 1 Peter Roughley
00373314 P5 PubMed: Barbirato 2015 - - - - - - - - - OI - 3 1 Raymond Dalgleish
00373315 OI_F9 PubMed: Shaheen 2012 - - - Saudi Arabia - - - - - OI - 1 1 Raymond Dalgleish
00373316 Proband 4 PubMed: Chang 2010 - - - United States African-American - - - - OI - 2 1 Raymond Dalgleish
00373317 - PubMed: Ben Amor 2011 - - - Sudan - - - - - OI - 1 1 Peter Roughley
00373318 Infant 2 PubMed: Barnes 2006 This patient has been reported subsequently as Proband 2 by PubMed: Chang et al., 2010.; This patients family has the ID OI_F8 and is of Saudi Arabian origin ({PMID23054245:Shaheen et al., 2012}). This appears to be at odds with the original description of the patient as black. - - - black - - - - OI - 1 1 Raymond Dalgleish
00373319 - PubMed: Morello 2006 This patient is referred to as Family 45 in {PMID21239989:Pyott et al., 2011}. - - India - - - - - OI - 1 1 Peter Byers
00373320 AN_005817 PubMed: Essawi 2018, Journal: Essawi 2018 - - - Palestine - - - - - OI - 1 1 Sofie Symoens
00373321 AN_005818 PubMed: Essawi 2018, Journal: Essawi 2018 - M - Palestine - - - - - OI - 1 1 Sofie Symoens
00373322 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00373323 - - - - - - - - - - - ? - 1 1 Raymond Dalgleish
00373324 No. 53 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - OI - 1 1 Raymond Dalgleish
00373325 No. 1010 PubMed: Caparros-Martin 2016 Both parents are heterozygous for the c.1112dup variant but no DNA was available for testing from the proband. - - Sudan - - - - - OI - 1 1 Raymond Dalgleish
00410179 Pat2 PubMed: Kuptanon 2022, Journal: Kuptanon 2022 - F yes Thailand - - - - - OI7 Dentinogenesis imperfecta (HP:0000703), Blue sclerae (HP:0000592), Brachycephaly (HP:0000248), Macrocephaly (HP:0000256) 2 1 Thanakorn Theerapanon
00435092 Pat1 PubMed: Udupa 2023 A 20-week-old male fetus showed bone developmental abnormalities. The fetus was medically aborted.  M yes ? (unknown) - 00y00m - - - OI7 - 1 1 Kim Worring
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