MSX2

msh homeobox 2
OMIM: 123101, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MSX2 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 2, MIM# 604757

Green MSX2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniosynostosis 2 (MIM#604757)
  • Parietal foramina 1 (MIM#168500)
  • Parietal foramina with cleidocranial dysplasia (MIM#168550)

Green MSX2 in Skeletal dysplasia

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
Phenotypes
  • Parietal foramina 1 168500
  • Parietal foramina with cleidocranial dysplasia 168550
  • Craniosynostosis, type 2 604757

Green MSX2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Parietal foramina 1

Green MSX2 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Craniosynostosis 2 (MIM#604757)
  • Parietal foramina 1 (MIM#168500)
  • Parietal foramina with cleidocranial dysplasia (MIM#168550)

Red MSX2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Craniosynostosis 2 (MIM#604757)
  • Parietal foramina 1 (MIM#168500)
  • Parietal foramina with cleidocranial dysplasia (MIM#168550)