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Intellectual disability

Gene: FBXO31

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Mental retardation, autosomal recessive 45, OMIM:615979
  • Intellectual disability, autosomal dominant
Tags
watchlist
OMIM
609102
Clinvar variants
Variants in FBXO31
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fbxo31 has been classified as Amber List (Moderate Evidence).

4 Dec 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: FBXO31.

4 Dec 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Intellectual disability, autosomal dominant to ?Mental retardation, autosomal recessive 45, OMIM:615979; Intellectual disability, autosomal dominant

4 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FBXO31 was added gene: FBXO31 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FBXO31 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBXO31 were set to 24623383; 32989326 Phenotypes for gene: FBXO31 were set to Mental retardation, autosomal recessive 45, MIM#615979; Intellectual disability, autosomal dominant Review for gene: FBXO31 was set to AMBER