All individuals with variants in gene B3GALT6

46 entries on 1 page. Showing entries 1 - 46.
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00081681 - - - M no - - - - - - SEMDJL1 - 2 1 Cynthia Silveira
00318131 Patient 1 PubMed: Nakajima et al., 2013 The patient had a sibling who was also compound heterozygous for both variants and had a similar phenotype.c.1A>G showed a decreased molecular weight ~4kD lower compared to the WT protein. The authors suggested that the translation initiation at the second ATG of the coding sequence (position c.124) would become the initiation codon, resulting in a protein change of p.Met1_Ala41del.The technique used was whole exome sequencing. - - Japan Japanese - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318132 Patient 3 PubMed: Nakajima et al., 2013 The authors predicted the c.1A>G variant would cause a 41 amino acid deletion due to the second ATG becoming the initiating codon. The technique used was whole exome sequencing. - - Japan Japanese - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318133 P4 PubMed: Nakajima et al., 2013 The authors predicted the c.1A>G variant would result in a 41aa deletion due to the second ATG being the initiation codon. - - Japan Japanese - - - - SEMDJL1 - 1 1 Raymond Dalgleish
00318134 P5 PubMed: Nakajima et al., 2013 The authors predicted the c.1A>G variant would result in a 41 aa deletion due to the second ATG becoming the initiating codon. The technique used was whole exome sequencing. - - Japan Japanese - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318135 P7 PubMed: Nakajima et al., 2013 The authors predicted the c.1A>G variant would result in a 41aa deletion due to the second ATG becoming the initiating codon. The technique used was whole exome sequencing. - - Japan;Singapore Japanese/Singaporean - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318136 - PubMed: Van Damme et al., 2018 - - - India Indian - - - - EDS, EDSSPD2 - 2 1 Sofie Symoens
00318137 P12 PubMed: Nakajima et al., 2013 - - - Brazil - - - - - EDS, EDSSPD1 - 2 1 Raymond Dalgleish
00318138 F1 PubMed: Vorster et al., 2014 The patient had an unaffected sibling who only carried the c.16C>T variant. - - South Africa Afrikaner - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318139 - PubMed: Van Damme et al., 2018 The technique used was the custom NGS Gene panel. - - France French - - - - EDS, EDSSPD2 - 2 1 Sofie Symoens
00318140 - PubMed: Van Damme et al., 2018 A non-consanguineous couple of Caucasian origin had two pregnancies terminated because of severe skeletal dysplasia. The second pregnancy was assigned the Patient ID AN_005849.The technique used was whole exome sequencing. - - Netherlands Dutch - - - - EDS, EDSSPD2 - 2 1 Sofie Symoens
00318141 - PubMed: Van Damme et al., 2018 This patient (PIV:1) has two affected siblings with IDs AN_005842 and AN_005843. - - Congo;Rwanda Congolese-Rwandan - - - - EDS, EDSSPD2 - 2 1 Sofie Symoens
00318142 P8 PubMed: Nakajima et al., 2013 - - - Viet Nam Vietnamese - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318143 Family 1 PubMed: Honey et al., 2016 The patient had a brother who was also positive for both variants, and had a similar phenotype. - - South Africa Afrikaner - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318144 Family 2 PubMed: Honey et al., 2016 - - - - - - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318145 Patient 1 PubMed: Ritelli et al., 2015 The patient had a younger sister who carried both variants and had a similar phenotype. The technique used was the custom NGS Gene panel. - - - - - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318146 F3 PubMed: Vorster et al., 2014 - - - - - - - - - SEMDJL1 - 1 1 Raymond Dalgleish
00318147 F8 PubMed: Vorster et al., 2014 One unaffected parent's B3GALT6 gene was sequenced and shown to be heterozygous for c.235A>G. - - South Africa Afrikaner - - - - SEMDJL1 - 1 1 Raymond Dalgleish
00318148 F10 PubMed: Vorster et al., 2014 - - - South Africa Afrikaner - - - - SEMDJL1 - 1 1 Raymond Dalgleish
00318149 Patient 3 PubMed: Caraffi et al., 2019 The patient was the second child of non-consanguineous parents. Three variants were detected, and variant c.308C>T was described as a variant of uncertain significance. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSSPD1 - 3 1 Raymond Dalgleish
00318150 P3 PubMed: Malfait et al., 2013 Has a younger sister, P4, of the same genotype - - Iran - - - - - EDS, EDSSPD2 - 2 1 Raymond Dalgleish
00318151 P9 PubMed: Nakajima et al., 2013 This patient was further described in {PMID31614862:Caraffi et al., 2019} - - Italy Italy - - - - EDS, EDSSPD1 - 2 1 Raymond Dalgleish
00318152 - PubMed: Van Damme et al., 2018 - - - Netherlands Dutch - - - - EDS, EDSSPD2 - 2 1 Sofie Symoens
00318153 - PubMed: Sellars et al., 2014 The authors have confirmed the transcript-level sequence variants that cause the amino acid substitutions.The technique used was whole exome sequencing. - - - - - - - - EDS, EDSSPD2 - 2 1 Raymond Dalgleish
00318154 - PubMed: Van Damme et al., 2018 - - - Netherlands Dutch - - - - EDS, EDSSPD2 - 2 1 Sofie Symoens
00318155 IV-5 PubMed: Trejo et al., 2017 The proband also had two siblings who carried both variants in B3GALT6, and were positive for SEMDJL, with some clinical variability. They were also described in {PMID28229453:Ranza et al., 2017} - - - - - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318156 - PubMed: Van Damme et al., 2018 The technique used was the custom NGS Gene panel. - - United States USA - - - - EDS, EDSSPD2 - 2 1 Sofie Symoens
00318157 Family 9 PubMed: Alazami et al., 2016 The formal ID for this family is 12DG2007.The technique used was whole exome sequencing. - - - - - - - - EDS, EDSSPD2 - 1 1 Raymond Dalgleish
00318158 - PubMed: Van Damme et al., 2018 - - - Iran Iranian - - - - EDS, EDSSPD2 - 1 1 Sofie Symoens
00318159 Family 6 PubMed: Alazami et al., 2016 The proband has an affected cousin.The formal ID for this family is 12DG0715.The technique used was whole exome sequencing. - - - - - - - - EDS, EDSSPD2 - 1 1 Raymond Dalgleish
00318160 Family 7 PubMed: Alazami et al., 2016 There are two affected individuals in this family.The formal ID for this family is 12DG1291.The technique used was whole genome sequencing. - - - - - - - - EDS, EDSSPD2 - 1 1 Raymond Dalgleish
00318161 Family 8 PubMed: Alazami et al., 2016 The formal ID for this family is 12DG2397.The technique used was whole genome sequencing. - - - - - - - - EDS, EDSSPD2 - 1 1 Raymond Dalgleish
00318162 P10 PubMed: Nakajima et al., 2013 P10, of family F9, has a younger female relative of the same genotype (relation not explicitly stated, probably a sister) - - Italy;Canada Italian/Canadian - - - - EDS, EDSSPD1 - 2 1 Raymond Dalgleish
00318163 V-2 PubMed: Ben-Mahmoud et al., 2018 This family was previously described in PubMed: Al-Gazali et al., 1999. The proband had two siblings V-1, and V-2, who carried the same variants and phenotype. The authors of {PMID29443383:Ben-Mahmoud et al., 2018} suggest that Al-Gazali syndrome represents the more severe phenotype among B3GALT6-related diseases due to patients dying within the first few months of life. - - Palestine Palestinian - - - - ALGAZ - 1 1 Raymond Dalgleish
00318164 P1 PubMed: Malfait et al., 2013 P1 has a maternal cousin, P2, of the same genotype - - Iran - - - - - EDS, EDSSPD2 - 1 1 Raymond Dalgleish
00318165 P5 PubMed: Malfait et al., 2013 - - - Iran - - - - - EDS, EDSSPD2 - 1 1 Raymond Dalgleish
00318166 P6 PubMed: Nakajima et al., 2013 The technique used was whole exome sequencing. - - Japan Japanese - - - - SEMDJL1 - 2 1 Raymond Dalgleish
00318167 - PubMed: Van Damme et al., 2018 The technique used was whole exome sequencing. - - United States USA - - - - EDS, EDSSPD2 - 2 1 Sofie Symoens
00318168 Patient 7 PubMed: Ranza et al., 2017 The patient initially had no clinical diagnosis, but was classified as having SEMDJL1 after molecular screening. The technique used was whole exome sequencing. - - - - - - - - SEMDJL1 - 1 1 Raymond Dalgleish
00331329 12DG0715 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Recurrent fractures, Delayed gross motor development, Blue sclerae, Short stature, KyphoYes 1 1 LOVD
00331330 12DG1291, 12DG1024 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Delayed gross motor development, Osteopenia, Abnormal facial shape, Micrognathia, BluNo 1 2 LOVD
00331331 12DG2397 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Multiple joint dislocation, Distal arthrogryposis, Aortic valve stenosis, Prominent foreheadYes 1 1 LOVD
00331332 12DG1024 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Hypotonia, Abnormal facial shape, Cutis laxa, Wide anterior fontanel, Hypotonia, Talipes eNo 1 1 LOVD
00331333 12DG2007 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Blue sclerae, Severe short stature, Mitral regurgitation, Joint laxity, Joint dislocation, Kyp Yes 1 1 LOVD
00428042 I-1 PubMed: Shen et al., 2022 - M no China - - - - - EDSSPD Craniofacial abnormalities, scoliosis, fifth-finger clinodactyly, restricted elbow movement, radioulnar synostosis, aclasis of right humerus and ulna 1 1 Oumaima Nehaili
00428046 III-2 PubMed: Shen et al., 2022 - M no China - - - - - EDSSPD Prominent craniofacial abnormalities, scoliosis, fifth-finger clinodactyly, restricted elbow movement, joint hypermobility, barrel chest, soft/doughy skin. 2 1 Oumaima Nehaili
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