Monogenic short stature
Gene: FBXO22EnsemblGeneIds (GRCh38): ENSG00000167196
EnsemblGeneIds (GRCh37): ENSG00000167196
OMIM: 609096, Gene2Phenotype
FBXO22 is in 3 panels
3 reviews
Ida Ertmanska (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Dec 2025, 1:25 p.m. | Last Modified: 11 Dec 2025, 1:25 p.m.
Panel Version: 1.27
Achchuthan Shanmugasundram (Genomics England Curator)
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. Intrauterine growth restriction was reported in 11 patients from ten families, and short stature was reported in ten patients from nine 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, 4:59 p.m.
Panel Version: 1.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tayoun-Maawali syndrome, OMIM:621184
Publications
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)
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: LiteratureCreated: 26 Apr 2025, 7:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental delay; malformations; OMIM# 621184
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Tayoun-Maawali syndrome, OMIM:621184
- OMIM
- 609096
- Clinvar variants
- Variants in FBXO22
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: FBXO22.
Added New Source, Added New Source, Status Update
Ida Ertmanska (Genomics England Curator)Source Expert Review Green was added to FBXO22. Source NHS GMS was added to FBXO22. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ NHS_review was removed from gene: FBXO22.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: FBXO22 was added gene: FBXO22 was added to Monogenic short stature. Sources: Literature,Expert Review Amber Q2_25_ promote_green, Q2_25_ NHS_review tags were added to gene: FBXO22. 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 Tayoun-Maawali syndrome, OMIM:621184