TSPEAR:Ensemblv115

thrombospondin type laminin G domain and EAR repeats
OMIM: 612920, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red TSPEAR in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 98, MIM#614861
Tags
  • disputed

Green TSPEAR in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 1.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180