Cerebral Palsy
Gene: FOXG1EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 12 panels
1 review
Danielle Ariti (University of Melbourne)
5 individuals in CP cohort reported with mono-allelic (de novo) FOXG1 variants.
All individuals presented with movement impairments (3 with Spastic quadriplegia), intellectual disability, and microcephaly (and 2 individuals with seizures).
Sources: Expert listCreated: 22 Sep 2021, 11:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral Palsy; Rett syndrome, congenital variant MIM# 613454
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral Palsy
- Rett syndrome, congenital variant MIM# 613454
- OMIM
- 164874
- Clinvar variants
- Variants in FOXG1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxg1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxg1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: FOXG1 was added gene: FOXG1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXG1 were set to 34077496; 33528536 Phenotypes for gene: FOXG1 were set to Cerebral Palsy; Rett syndrome, congenital variant MIM# 613454 Review for gene: FOXG1 was set to GREEN