TSPEAR - Gene browser

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.

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

03
Patient count

Abnormality of vitamin d metabolism: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Clinodactyly of the 5th finger: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Conical tooth: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Hyperlordosis: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Joint hypermobility: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)