Disease #02082 (SEMDJL1 (dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1)), OMIM:271640)

Official abbreviation SEMDJL1
Name dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1)
OMIM ID 271640
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 17
Phenotype entries for this disease 1
Associated with 1 gene B3GALT6
Associated tissues -
Disease features -
Remarks -


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00081681 - - - M no ? (unknown) - - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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 - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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 - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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 - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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 - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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 - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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 - 0 - - SEMDJL1 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318142 P8 PubMed: Nakajima et al., 2013 - - - Viet Nam Vietnamese - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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 - 0 - - SEMDJL1 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318144 Family 2 PubMed: Honey et al., 2016 - - - - - - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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. - - - - - 0 - - SEMDJL1 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318146 F3 PubMed: Vorster et al., 2014 - - - - - - 0 - - SEMDJL1 - B3GALT6 B3GALT6 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 - 0 - - SEMDJL1 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
00318148 F10 PubMed: Vorster et al., 2014 - - - South Africa Afrikaner - 0 - - SEMDJL1 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
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} - - - - - 0 - - SEMDJL1 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
00318166 P6 PubMed: Nakajima et al., 2013 The technique used was whole exome sequencing. - - Japan Japanese - 0 - - SEMDJL1 - B3GALT6 B3GALT6 2 1 Raymond Dalgleish
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. - - - - - 0 - - SEMDJL1 - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
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