Structural eye disease
Gene: NR2F1Comment on list classification: Promoting from grey to red as 1 case reported.Created: 9 Sep 2022, 11:40 p.m. | Last Modified: 9 Sep 2022, 11:40 p.m.
Panel Version: 1.146
As Samantha Malka comments PMID:34787370 (Gazdagh et al 2022) report a severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) in a patient with a de novo missense variant in the start codon of the NR2F1 gene. The patient showed a typical BBSOAS phenotype with developmental delay, seizures, optic atrophy however this patient also had colobomas and septo-optic dysplasia.Created: 9 Sep 2022, 11:39 p.m. | Last Modified: 9 Sep 2022, 11:39 p.m.
Panel Version: 1.144
One report in literature of a phenotype including coloboma
Sources: LiteratureCreated: 2 Sep 2022, 10:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bosch-Boonstra-Schaaf optic atrophy syndrome
Publications
Mode of pathogenicity
Other
Gene: nr2f1 has been classified as Red List (Low Evidence).
Mode of pathogenicity for gene: NR2F1 was changed from Other to None
Publications for gene: NR2F1 were set to PMID: 34787370
Phenotypes for gene: NR2F1 were changed from Bosch-Boonstra-Schaaf optic atrophy syndrome to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722; Bosch-Boonstra-Schaaf optic atrophy syndrome, MONDO:0014320
gene: NR2F1 was added gene: NR2F1 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR2F1 were set to PMID: 34787370 Phenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome Penetrance for gene: NR2F1 were set to Complete Mode of pathogenicity for gene: NR2F1 was set to Other Review for gene: NR2F1 was set to RED