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Additional findings_Paediatric

Gene: MSX2

Green List (high evidence)

MSX2 (msh homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000120149
EnsemblGeneIds (GRCh37): ENSG00000120149
OMIM: 123101, Gene2Phenotype
MSX2 is in 6 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Parietal foramina 1
OMIM
123101
Clinvar variants
Variants in MSX2
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSX2 was added gene: MSX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSX2 were set to Parietal foramina 1