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Intellectual disability

Gene: FBXO22

Amber List (moderate evidence)
FBXO22 (F-box protein 22)
EnsemblGeneIds (GRCh38): ENSG00000167196
EnsemblGeneIds (GRCh37): ENSG00000167196
OMIM: 609096, Gene2Phenotype
FBXO22 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Created: 9 May 2025, 9:01 p.m. | Last Modified: 9 May 2025, 9:01 p.m.
Panel Version: 9.20
As reviewed by Julia Baptista, PMID:40215970 reported 16 cases (15 affected children and one foetus) from 14 unrelated families presenting with a pleiotropic syndrome with prominent prenatal onset growth restriction and notable neurodevelopmental delay. They were identified with four distinct homozygous germline FBXO22 variants with loss-of-function effects segregating with the disease. Intellectual disability was reported in seven patients from six families.

This gene has been associated with relevant phenotypes in OMIM (MIM #621184), but not yet in Gene2Phenotype.
Created: 9 May 2025, 8:58 p.m. | Last Modified: 12 May 2025, 4:17 p.m.
Panel Version: 9.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tayoun-Maawali syndrome, OMIM:621184

Publications

Created: 9 May 2025, 8:58 p.m.
Last Modified: 12 May 2025, 4:17 p.m.
Panel version: 9.18

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Green List (high evidence)

15 affected children (nine females and six males) and one fetus (16 cases in total) presenting a common core symptomatology of early-onset growth restriction, neurodevelopmental delay, craniofacial abnormalities, and additional poly-malformations (cardiovascular, gastrointestinal, urinal, and endocrinal) (Figure 1A). All individuals belonged to 14 families from four countries of the Greater Middle East region (UAE, KSA, Oman, and Lebanon), of which 12 were identified as consanguineous. Of the 16 cases, three passed away (F7-II:1, F9-II:1, and F13-II:4), and one was a second-trimester termination of pregnancy (TOP) of unknown sex.
Sources: Literature
Created: 26 Apr 2025, 7:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental delay; malformations; OMIM# 621184

Publications

Created: 26 Apr 2025, 7:16 p.m.

Panel version: 8.243

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Tayoun-Maawali syndrome, OMIM:621184
Tags
Q2_25_ promote_green Q2_25_ NHS_review
OMIM
609096
Clinvar variants
Variants in FBXO22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: fbxo22 has been classified as Amber List (Moderate Evidence).

9 May 2025, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: FBXO22 were changed from neurodevelopmental delay; malformations; OMIM# 621184 to Tayoun-Maawali syndrome, OMIM:621184

9 May 2025, Gel status: 0

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: FBXO22. Tag Q2_25_ NHS_review tag was added to gene: FBXO22.

26 Apr 2025, Gel status: 0

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

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

gene: FBXO22 was added gene: FBXO22 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXO22 were set to 40215970 Phenotypes for gene: FBXO22 were set to neurodevelopmental delay; malformations; OMIM# 621184 Review for gene: FBXO22 was set to GREEN