TSPEAR Chromosome 21
Thrombospondin type laminin G domain and EAR repeats
Upload your DNA to see your personal genotypes for variants in TSPEAR.
What This Gene Does
This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Associated Conditions (14)
TSPEAR-related disorder
Ectodermal dysplasia 14
hair/tooth type with or without hypohidrosis
Autosomal recessive nonsyndromic hearing loss 98
Inborn genetic diseases
Tooth agenesis
selective
10
Thyroid cancer
nonmedullary
1
hair/tooth type
with hypohidrosis
TSPEAR-related disorder of tooth and hair follicle morphogenesis
Key Variants
RS117034581
Conflicting classifications of pathogenicity
TSPEAR-related disorder, TSPEAR-related disorder
Health Risk
RS1237164123
Conflicting classifications of pathogenicity
Health Risk
RS138480801
Conflicting classifications of pathogenicity
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, Autosomal recessive nonsyndromic hearing loss 98
Health Risk
RS140542643
Conflicting classifications of pathogenicity
TSPEAR-related disorder, TSPEAR-related disorder
Health Risk
RS140778310
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140818230
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141753295
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143814541
Conflicting classifications of pathogenicity
Inborn genetic diseases, TSPEAR-related disorder, Inborn genetic diseases
Health Risk
RS143840354
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143941725
Conflicting classifications of pathogenicity
Inborn genetic diseases, TSPEAR-related disorder, Inborn genetic diseases
Health Risk
RS144166142
Conflicting classifications of pathogenicity
Inborn genetic diseases, TSPEAR-related disorder, Inborn genetic diseases
Health Risk
RS144586270
Conflicting classifications of pathogenicity
TSPEAR-related disorder, TSPEAR-related disorder
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117034581 | Health Risk | Conflicting classifications of pathogenicity | TSPEAR-related disorder, TSPEAR-related disorder |
| RS1237164123 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138480801 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, Autosomal recessive nonsyndromic hearing loss 98 |
| RS140542643 | Health Risk | Conflicting classifications of pathogenicity | TSPEAR-related disorder, TSPEAR-related disorder |
| RS140778310 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140818230 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141753295 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143814541 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TSPEAR-related disorder, Inborn genetic diseases |
| RS143840354 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143941725 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TSPEAR-related disorder, Inborn genetic diseases |
| RS144166142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TSPEAR-related disorder, Inborn genetic diseases |
| RS144586270 | Health Risk | Conflicting classifications of pathogenicity | TSPEAR-related disorder, TSPEAR-related disorder |
| RS146257403 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 98, Autosomal recessive nonsyndromic hearing loss 98 |
| RS147904376 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148421362 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148967240 | Health Risk | Conflicting classifications of pathogenicity | TSPEAR-related disorder, TSPEAR-related disorder |
| RS149481227 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150016894 | Health Risk | Conflicting classifications of pathogenicity | TSPEAR-related disorder, TSPEAR-related disorder |
| RS151001222 | Health Risk | Conflicting classifications of pathogenicity | TSPEAR-related disorder, Inborn genetic diseases, TSPEAR-related disorder |
| RS182590005 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 98, Autosomal recessive nonsyndromic hearing loss 98 |
| RS199699551 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201202780 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201663789 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis |
| RS2145961078 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, Tooth agenesis |
| RS369010851 | Health Risk | Conflicting classifications of pathogenicity | Tooth agenesis, selective, 10 |
| RS587636728 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TSPEAR-related disorder, Inborn genetic diseases |
| RS587717339 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 98, Tooth agenesis, selective |
| RS781913166 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781994662 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 98, Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis |
| RS782088056 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, Autosomal recessive nonsyndromic hearing loss 98 |
| RS782130589 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782145177 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Tooth agenesis, selective |
| RS782321685 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782338346 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, Inborn genetic diseases |
| RS782352724 | Health Risk | Conflicting classifications of pathogenicity | Tooth agenesis, selective, 10 |
| RS782471965 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782571753 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782650688 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782716325 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, Ectodermal dysplasia 14 |
| RS146600721 | Health Risk | Likely pathogenic | — |
| RS1555914369 | Health Risk | Likely pathogenic | — |
| RS1569165728 | Health Risk | Likely pathogenic | — |
| RS2517308888 | Health Risk | Likely pathogenic | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, Ectodermal dysplasia 14 |
| RS2517395250 | Health Risk | Likely pathogenic | TSPEAR-related disorder, TSPEAR-related disorder |
| RS373504201 | Health Risk | Likely pathogenic | — |
| RS587671725 | Health Risk | Likely pathogenic | — |
| RS587690535 | Health Risk | Likely pathogenic | Tooth agenesis, selective, 10 |
| RS782427465 | Health Risk | Likely pathogenic | — |
| RS782799824 | Health Risk | Likely pathogenic | — |
| RS1253114701 | Health Risk | Pathogenic | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, Ectodermal dysplasia 14 |