PanelApp (test)
  1. Genes and Genomic Entities
  2. GSC

GSC

goosecoid homeobox
OMIM: 138890, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GSC in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471

Green GSC in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471

Green GSC in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471

Green GSC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471

Green GSC in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471

    Green GSC in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227
    • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471