Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: FOXR1

No list

FOXR1 (forkhead box R1)
EnsemblGeneIds (GRCh38): ENSG00000176302
EnsemblGeneIds (GRCh37): ENSG00000176302
OMIM: 615755, Gene2Phenotype
FOXR1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

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: Literature
Created: 4 Dec 2021, 2:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Postnatal microcephaly, progressive brain atrophy and global developmental delay

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
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

4 Dec 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: FOXR1 was added gene: FOXR1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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