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Mendeliome

Gene: FBXO31

Green List (high evidence)

FBXO31 (F-box protein 31)
EnsemblGeneIds (GRCh38): ENSG00000103264
EnsemblGeneIds (GRCh37): ENSG00000103264
OMIM: 609102, Gene2Phenotype
FBXO31 is in 3 panels

4 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

In addition to the 2 published cases:

- 1 VCGS internal family with a complex neurodevelopmental abnormality, 3 affected siblings all homozygous for a canonical splice (now classified as likely pathogenic)
- Personal communication: another unpublished patient with a biallelic multiple exon deletion
Created: 15 Feb 2024, 12:16 a.m. | Last Modified: 15 Feb 2024, 12:16 a.m.
Panel Version: 1.1538

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 45 (MIM#615979)

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 35019165
1x consanguineous Iranian family with 2 affecteds, hom for p.(Arg511Gln)
- severe ID and no dysmorphism
- no functional studies were performed
- variant is absent in gnomad and residue is highly conserved

PMID: 24623383
1x consanguineous Pakistani family hom for p.(Cys283asnfs*81), 6 affecteds
- mRNA and western blot of lymphoblasts demonstrated reduced expression

AMBER for AR association
Created: 16 Aug 2023, 2:47 a.m. | Last Modified: 16 Aug 2023, 2:47 a.m.
Panel Version: 1.1111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 45 (MIM#615979)

Publications

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

Kristin Rigbye (Victorian Clinical Genetics Services)

I don't know

2 unrelated probands with CP 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.

Extended 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).
Created: 2 Nov 2020, 5:01 a.m. | Last Modified: 2 Nov 2020, 5:05 a.m.
Panel Version: 0.5254

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cerebral palsy

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMIDs 33675180; 32989326: three unrelated individuals with de novo missense variant, (p.Asp334Asn) and spastic-dystonic CP.
Created: 7 May 2021, 7:56 a.m. | Last Modified: 7 May 2021, 7:56 a.m.
Panel Version: 0.7541
AR intellectual disability: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Sources: Expert list
Created: 3 Dec 2019, 3:26 a.m. | Last Modified: 7 May 2021, 7:57 a.m.
Panel Version: 0.7541

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, de novo dominant

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 45 (MIM#615979
  • Cerebral palsy, MONDO:0006497, FBXO31-related
  • Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant
OMIM
609102
Clinvar variants
Variants in FBXO31
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant to Intellectual developmental disorder, autosomal recessive 45 (MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant

17 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant

17 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBXO31 were set to 24623383; 32989326

7 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxo31 has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979 to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant

2 Nov 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBXO31 were set to 24623383

2 Nov 2020, Gel status: 2

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: FBXO31 was changed from None to Other

2 Nov 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FBXO31 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbxo31 has been classified as Red List (Low Evidence).

3 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBXO31 was added gene: FBXO31 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: FBXO31 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXO31 were set to 24623383 Phenotypes for gene: FBXO31 were set to Mental retardation, autosomal recessive 45, MIM#615979 Review for gene: FBXO31 was set to RED