1. Genes and Genomic Entities
  2. GSC

GSC

goosecoid homeobox
OMIM: 138890, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green GSC in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 602471
  • Short stature,auditory canal atresia,mandibular hypoplasia,skeletal abnormalities,602471
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
  • Causes SAMS syndrome
  • syndromic features
Green GSC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    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
    Green GSC in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471
    • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227
    Red GSC in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities,
    Green GSC in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471