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TSPEAR

thrombospondin type laminin G domain and EAR repeats

HCNC Approved Symbol
TSPEAR (HGNC:1268)
Genomic Coordinates
21:44,497,893 - 44,711,572 (21q22.3)
Synonyms
MGC11251, TSP-EAR, C21orf29, DFNB98
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the TSPEAR gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Abnormality of vitamin d metabolism
 2 (66.7%)
Clinodactyly of the 5th finger
 2 (66.7%)
Conical tooth
 2 (66.7%)
Hyperlordosis
 2 (66.7%)
Joint hypermobility
 2 (66.7%)
TSPEAR - Gene browser | 3billion