GINS2

GINS complex subunit 2
OMIM: 610609, Gene2Phenotype

3 panels

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

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

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 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Meier-Gorlin syndrome with craniosynostosis
Red GINS2 in Growth failure in early childhood


Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

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