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Intellectual disability syndromic and non-syndromic

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- Personal communication: another unpublished patient with a biallelic multiple exon deletion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: 0.5698

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

AR association

Internal VCGS cohort:
- 1x hom splice variant (RNA studies not done)

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
Created: 28 Aug 2023, 1:19 a.m. | Last Modified: 28 Aug 2023, 1:19 a.m.
Panel Version: 0.5337

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual developmental disorder 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, 5:06 a.m. | Last Modified: 2 Nov 2020, 5:06 a.m.
Panel Version: 0.3132

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 45, MIM#615979; 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, including ID.
Created: 7 May 2021, 8:01 a.m. | Last Modified: 7 May 2021, 8:01 a.m.
Panel Version: 0.3747
AR ID: Single consanguineous family reported with homozygous truncating variant, limited functional evidence.
Created: 3 Dec 2019, 3:18 a.m. | Last Modified: 7 May 2021, 8:01 a.m.
Panel Version: 0.3747

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
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 45, MIM#615979
  • Spastic-dystonic cerebral palsy, de novo dominant
OMIM
609102
Clinvar variants
Variants in FBXO31
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

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, de novo dominant

7 May 2021, 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 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

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; Cerebral palsy, intellectual disability, autosomal dominant to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, intellectual disability, autosomal dominant

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 to Other

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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXO31 were changed from to Mental retardation, autosomal recessive 45, MIM#615979

3 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBXO31 were set to

3 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FBXO31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBXO31 was added gene: FBXO31 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FBXO31 was set to Unknown