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Hearing loss

Gene: MSX2

Red List (low evidence)

MSX2 (msh homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000120149
EnsemblGeneIds (GRCh37): ENSG00000120149
OMIM: 123101, Gene2Phenotype
MSX2 is in 7 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#168500:Parietal foramina 1[Cleft lipCleft palate; Symmetrical, oval parietal bone defectsCranium bifidum; Scalp defect; HeadacheSeizures]; #168550:Parietal foramina with cleidocranial dysplasia[Clavicular hypoplasia; Persistent wide fontanel; Symmetrical, oval defects in the parietal bone]; #604757:Craniosynostosis, type 2[<omim version=1.0><clinicalSynopsisList>]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MSX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert