Microcephaly
Gene: FOXR1EnsemblGeneIds (GRCh38): ENSG00000176302
EnsemblGeneIds (GRCh37): ENSG00000176302
OMIM: 615755, Gene2Phenotype
FOXR1 is in 4 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.
In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).
A mouse knockout has comparable phenotypes, and a severe survival deficit.
Rated amber (1 patient, functional evidence, mouse model).
Sources: LiteratureCreated: 3 Dec 2021, 3:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Postnatal microcephaly, progressive brain atrophy and global developmental delay
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Postnatal microcephaly, progressive brain atrophy and global developmental delay
- OMIM
- 615755
- Clinvar variants
- Variants in FOXR1
- 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: foxr1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: FOXR1 was added gene: FOXR1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXR1 were set to 34723967 Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay Review for gene: FOXR1 was set to AMBER gene: FOXR1 was marked as current diagnostic