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Monogenic short stature v1.27 FBXO22 Ida Ertmanska reviewed gene: FBXO22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 FBXO22 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: FBXO22.
Monogenic short stature v1.26 FBXO22 Ida Ertmanska reviewed gene: FBXO22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.25 FBXO22 Ida Ertmanska 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)
Monogenic short stature v1.17 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. Intrauterine growth restriction was reported in nine patients from eight families, and short stature was reported in eight patients from seven 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. 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.
Monogenic short stature v1.17 FBXO22 Achchuthan Shanmugasundram Tag Q2_25_ NHS_review was removed from gene: FBXO22.
Monogenic short stature v1.17 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 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. Intrauterine growth restriction was reported in nine patients from eight families, and short stature was reported in eight patients from seven families.

This gene has been associated with relevant phenotypes in OMIM (MIM #621184), but not yet in Gene2Phenotype.
Monogenic short stature v1.17 FBXO22 Achchuthan Shanmugasundram Entity copied from Intellectual disability v9.20
Monogenic short stature v1.17 FBXO22 Achchuthan Shanmugasundram 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