Activity
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| Intellectual disability v9.21 | FBXO22 |
Achchuthan Shanmugasundram changed review comment from: 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 prenatal onset growth restriction and notable neurodevelopmental delay. They were identified with four distinct homozygous FBXO22 variants with loss-of-function effects segregating with the disease. Intellectual disability was reported in six patients from five families. This gene has been associated with relevant phenotypes in OMIM (MIM #621184), but not yet in Gene2Phenotype.; to: 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. |
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| Intellectual disability v9.20 | FBXO22 | Achchuthan Shanmugasundram Classified gene: FBXO22 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.20 | FBXO22 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.20 | FBXO22 | Achchuthan Shanmugasundram Gene: fbxo22 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.19 | FBXO22 | Achchuthan Shanmugasundram Phenotypes for gene: FBXO22 were changed from neurodevelopmental delay; malformations; OMIM# 621184 to Tayoun-Maawali syndrome, OMIM:621184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.18 | FBXO22 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: FBXO22. Tag Q2_25_ NHS_review tag was added to gene: FBXO22. |
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| Intellectual disability v9.18 | FBXO22 | Achchuthan Shanmugasundram reviewed gene: FBXO22: Rating: GREEN; Mode of pathogenicity: None; Publications: 40215970; Phenotypes: Tayoun-Maawali syndrome, OMIM:621184; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.243 | FBXO22 |
Julia Baptista 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 Added comment: 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 |
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