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Hearing loss

Gene: NR2F1

Red List (low evidence)

NR2F1 (nuclear receptor subfamily 2 group F member 1)
EnsemblGeneIds (GRCh38): ENSG00000175745
EnsemblGeneIds (GRCh37): ENSG00000175745
OMIM: 132890, Gene2Phenotype
NR2F1 is in 8 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

#615722:Bosch-Boonstra-Schaaf optic atrophy syndrome[Dysmorphic features, variable, nonspecific; Pale optic discsSmall optic discsLarge optic discsExcavation of optic discsStrabismusNystagmusDecreased visual acuityVisual field defectsCerebral visual impairment; Tapering fingers; Delayed developmentIntellectual disability; Autistic features (in some patients); Caused by mutation in the nuclear receptor subfamily 2, group F, member 1 gene (NR2F1,)]


History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NR2F1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert