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Hearing loss

Gene: VANGL2

Red List (low evidence)

VANGL2 (VANGL planar cell polarity protein 2)
EnsemblGeneIds (GRCh38): ENSG00000162738
EnsemblGeneIds (GRCh37): ENSG00000162738
OMIM: 600533, Gene2Phenotype
VANGL2 is in 3 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

Phenotypes
#182940:Neural tube defects[Spina bifida; Anencephaly; Spina bifida cystica; Hydrocephalus; Spina bifida occulta; Spinal dysraphism; Diastematomyelia; Intradural/extradural lipoma; Sacral hairy patch or dimple; Asymmetry of spinal facet joints; Sacral agenesis; Caudal regression syndrome; Neurologic signs in legs; Urinary incontinence]

Publications

Details

Sources
  • Expert
OMIM
600533
Clinvar variants
Variants in VANGL2
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VANGL2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert