Genomics England
GMS Panels
Panels
Genes and Entities

SEC24D

SEC24 homolog D, COPII coat complex component
OMIM: 607186
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SYNDROMIC OSTEOGENESIS IMPERFECTA
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cole-Carpenter syndrome, Osteogenesis Imperfecta, Cole Carpenter syndrome, SYNDROMIC OSTEOGENESIS IMPERFECTA
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta, Cole Carpenter syndrome, Cole-Carpenter syndrome, SYNDROMIC OSTEOGENESIS IMPERFECTA