TSPEAR

thrombospondin type laminin G domain and EAR repeats
OMIM: 612920, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TSPEAR in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Green TSPEAR in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Red TSPEAR in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Deafness, autosomal recessive 98, 614861