Genomics England
GMS Panels
Panels
Genes and Entities

CTGF

connective tissue growth factor
OMIM: 121009
PanelMode of inheritanceDetails
3 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kyphomelic dysplasia, OMIM:211350, kyphomelic dysplasia, MONDO:0008881, spondyloepimetaphyseal dysplasia, MONDO:0100510
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kyphomelic dysplasia, OMIM:211350, kyphomelic dysplasia, MONDO:0008881, spondyloepimetaphyseal dysplasia, MONDO:0100510
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kyphomelic dysplasia, OMIM:211350, kyphomelic dysplasia, MONDO:0008881, spondyloepimetaphyseal dysplasia, MONDO:0100510