Deafness_IsolatedAndComplex
Gene: NR2F1

NR2F1 (nuclear receptor subfamily 2 group F member 1)
EnsemblGeneIds (GRCh38): ENSG00000175745
EnsemblGeneIds (GRCh37): ENSG00000175745
OMIM: 132890, Gene2Phenotype
NR2F1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Link to deafness is based on a patient reported with a cytogenetic abnormality involving this gene; however note that deafness is not a reported feature in individuals with Bosch-Boonstra-Schaaf syndrome, and therefore may have had a different cause in the original patient.
Created: 28 Jan 2020, 10:31 p.m. | Last Modified: 28 Jan 2020, 10:31 p.m.

Panel Version: 0.238

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722

Publications

Created: 28 Jan 2020, 10:31 p.m.
Last Modified: 28 Jan 2020, 10:31 p.m.
Panel version: 0.238

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722

OMIM

132890

Clinvar variants

Variants in NR2F1

Penetrance

None

Publications

Panels with this gene