Genomics England
GMS Panels
Panels
Genes and Entities

TMEM251

transmembrane protein 251
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TMEM251-related skeletal dysplasia
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysostosis multiplex, Ain-Naz type, OMIM:619345