Intellectual disability
Gene: FBXO31

FBXO31 (F-box protein 31)
EnsemblGeneIds (GRCh38): ENSG00000103264
EnsemblGeneIds (GRCh37): ENSG00000103264
OMIM: 609102, Gene2Phenotype
FBXO31 is in 1 panel

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.

Panel Version: 3.1519

Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Ivone Leong (Genomics England Curator)

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 30 Jun 2021, 3:17 p.m. | Last Modified: 30 Jun 2021, 3:17 p.m.

Panel Version: 3.1150

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Created: 4 Dec 2020, 2:50 p.m. | Last Modified: 4 Dec 2020, 2:50 p.m.

Panel Version: 3.585

Created: 4 Dec 2020, 2:50 p.m.
Last Modified: 4 Dec 2020, 2:50 p.m.
Panel version: 3.1150

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP, including ID.

AR ID: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Created: 10 May 2021, 10:40 a.m. | Last Modified: 10 May 2021, 10:40 a.m.

Panel Version: 3.1069

Bi-allelic variants: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.

Mono-allelic variants: 2 unrelated probands reported as part of a 'cerebral palsy' cohort harbouring the same de novo missense variant (p.Asp334Asn). The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression.

Patient phenotypes: Spastic diplegia, with esotropia, ID, dysarthria, mixed receptive/expressive language disorder, ADHD, cleft palate, intestinal malrotation and midgut volvulus (patient 1); Spastic paraplegia with ventricular dilation and thin corpus callosum, ID, attention deficit, anxiety, language impairments, strabismus, severe constipation (patient 2).
Sources: Literature
Created: 4 Nov 2020, 2:41 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 45, MIM#615979; Intellectual disability, spasticity, autosomal dominant

Publications

Created: 4 Nov 2020, 2:41 a.m.

Panel version: 3.1069

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

?Mental retardation, autosomal recessive 45, OMIM:615979
Intellectual disability, autosomal dominant

OMIM

609102

Clinvar variants

Variants in FBXO31

Penetrance

None

Publications

Panels with this gene

Intellectual disability