TAPT1

transmembrane anterior posterior transformation 1
OMIM: 612758
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
R-numbers: R102
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897