Deafness_IsolatedAndComplex
Gene: NR2F1
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
Gene: nr2f1 has been classified as Red List (Low Evidence).
Publications for gene: NR2F1 were set to
Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: nr2f1 has been classified as Red List (Low Evidence).
gene: NR2F1 was added gene: NR2F1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: NR2F1 was set to Unknown