Gene: TSPEAR-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TSPEAR

Alternate names for this Gene: C21orf29|DFNB98|ECTD14|TSP-EAR

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: thrombospondin type laminin G domain and EAR repeats

Type of Gene: protein-coding

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Abnormal posture PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Abnormality of the dentition PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Delayed speech and language development PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Dyskinetic syndrome PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Dystonia PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs782543541 in TSPEAR-AS1;TSPEAR gene and ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Impaired cognition PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Maternal seizures PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Muscular hypotonia of the trunk PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Sagittal craniosynostosis PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Seizures PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Slurred speech PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Taurodontism PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Tooth absent PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs1569151872 in TSPEAR-AS1;TSPEAR gene and Widely spaced teeth PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.