Cerebral Palsy
Gene: NR2F1EnsemblGeneIds (GRCh38): ENSG00000175745
EnsemblGeneIds (GRCh37): ENSG00000175745
OMIM: 132890, Gene2Phenotype
NR2F1 is in 9 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.
Sources: LiteratureCreated: 27 May 2024, 12:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722; NR2F1-related neurodevelopmental disorder
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722
- NR2F1-related neurodevelopmental disorder
- OMIM
- 132890
- Clinvar variants
- Variants in NR2F1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nr2f1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nr2f1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: NR2F1 was added gene: NR2F1 was added to Cerebral Palsy. 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: 38693247 Phenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722; NR2F1-related neurodevelopmental disorder Review for gene: NR2F1 was set to RED