Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: FOXR1

Amber List (moderate evidence)

FOXR1 (forkhead box R1)
EnsemblGeneIds (GRCh38): ENSG00000176302
EnsemblGeneIds (GRCh37): ENSG00000176302
OMIM: 615755, Gene2Phenotype
FOXR1 is in 4 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

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: 3 Dec 2021, 3:18 a.m. | Last Modified: 3 Dec 2021, 3:22 a.m.
Panel Version: 0.10019

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

3 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxr1 has been classified as Amber List (Moderate Evidence).

3 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxr1 has been classified as Amber List (Moderate Evidence).

3 Dec 2021, Gel status: 0

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 Mendeliome. 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