Genomics England
GMS Panels
Panels
Genes and Entities

GSC

goosecoid homeobox
OMIM: 138890
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MONDO:0011227, OMIM:602471.0, GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471, Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227
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
Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471, Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471