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Hearing loss

Gene: GFER

Red List (low evidence)

GFER (growth factor, augmenter of liver regeneration)
EnsemblGeneIds (GRCh38): ENSG00000127554
EnsemblGeneIds (GRCh37): ENSG00000127554
OMIM: 600924, Gene2Phenotype
GFER is in 14 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
Unknown

Phenotypes
#613076:Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay[<omim version=1.0><clinicalSynopsisList>]

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
  • Myopathy,mitochondrialprogressive,withcongenitalcataract,hearingloss,anddevelopmentaldelay,613076
OMIM
600924
Clinvar variants
Variants in GFER
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GFER was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen