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  3. FOXR1
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Intellectual disability syndromic and non-syndromic

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, 3:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Postnatal microcephaly, progressive brain atrophy and global developmental delay

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Dec 2021, 3:38 a.m.

Panel version: 0.4322

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

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: FOXR1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

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, Set mode of pathogenicity

Paul De Fazio (Victorian Clinical Genetics Services)

gene: FOXR1 was added gene: FOXR1 was added to Intellectual disability syndromic and non-syndromic. 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 Mode of pathogenicity for gene: FOXR1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FOXR1 was set to AMBER gene: FOXR1 was marked as current diagnostic