Genomics England
GMS Panels
Panels
Genes and Entities

TSPEAR

thrombospondin type laminin G domain and EAR repeats
OMIM: 612920
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TSPEAR-related ectodermal dysplasia and tooth agenesis
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180