GINS2

GINS complex subunit 2
OMIM: 610609, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red GINS2 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meier-Gorlin syndrome like
  • Meier-Gorlin syndrome, MONDO:0016817
Red GINS2 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Meier-Gorlin syndrome with craniosynostosis
Red GINS2 in Monogenic short stature


Level 2: Endocrinology
Version 1.31
Latest signed off version: v1.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Meier-Gorlin syndrome like
  • Meier-Gorlin syndrome, MONDO:0016817