GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Spondylocostal Dysostosis(Spondylothoracic dysostosis)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Bone disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 MESP2/145873 mesoderm posterior bHLH transcription factor 2 15q26.1 Chr15, NC_000015.10
(89776332..89778754)
2423 nt 2 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 DLL3/10683 delta like canonical Notch ligand 3 19q13.2 Chr19, NC_000019.10
(39498947..39508469)
9523 nt 8 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 LFNG/3955 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 7p22.3 Chr7, NC_000007.14
(2512529..2529177)
16649 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 HES7/84667 hes family bHLH transcription factor 7 17p13.1 Chr17, NC_000017.11
(8120592..8126634, complement)
6043 nt 6 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 TBX6/6911 T-box transcription factor 6 16p11.2 Chr16, NC_000016.10
(30085793..30091924, complement)
6132 nt 10 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 RIPPLY2/134701 ripply transcriptional repressor 2 6q14.2 Chr6, NC_000006.12
(83853229..83857515)
4287 nt 3 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development