Genomics England
GMS Panels
Panels
Genes and Entities

TMEM38B

transmembrane protein 38B
OMIM: 611236
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XIV, OMIM:615066, Osteogenesis imperfecta type 14, MONDO:0014029
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XIV, OMIM:615066, Osteogenesis imperfecta type 14, MONDO:0014029
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XIV, OMIM:615066, Osteogenesis imperfecta type 14, MONDO:0014029