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Hearing loss

Gene: FZD6

Red List (low evidence)

FZD6 (frizzled class receptor 6)
EnsemblGeneIds (GRCh38): ENSG00000164930
EnsemblGeneIds (GRCh37): ENSG00000164930
OMIM: 603409, Gene2Phenotype
FZD6 is in 4 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#614157:Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)[Onychauxis (thickening)OnycholysisHyponychiaClaw-like appearance of fingernails; Caused by mutation in the homolog of Drosophila frizzled-6 gene (FZD6,)]

Publications

Details

Sources
  • Expert
OMIM
603409
Clinvar variants
Variants in FZD6
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FZD6 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert