| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ciliopathies v1.69 | FGF4 | Bryony Thompson Marked gene: FGF4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.69 | FGF4 | Bryony Thompson Gene: fgf4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.69 | FGF4 | Bryony Thompson Classified gene: FGF4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.69 | FGF4 | Bryony Thompson Gene: fgf4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.68 | FGF4 |
Sangavi Sivagnanasundram gene: FGF4 was added gene: FGF4 was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF4 were set to 40259859 Phenotypes for gene: FGF4 were set to Jeune Syndrome, FGF4-related, MONDO:0018770 Review for gene: FGF4 was set to AMBER Added comment: Two families with three affected individuals reported with homozygous variants in FGF4. Family 1 - Consanguineous parents with five children. Three are unaffected and two are affected with Jeune syndrome - like phenotypes. One of the affected siblings is deceased. Proband was diagnosed with pulmonary hypoplasia at 6 months and later identified to have Jeune Syndrome due to other findings. Homozygous p.Leu86Phe missense variant was identified (variant absent from gnomAD v4.1) Family 2 - Non-consanguineous parents with affected son with Jeune syndrome like phenotype (pulmonary hypoplasia and thoracic dystrophy) Homozygous p.Pro204His missense variant was identified (variant absent from gnomAD v4.1) Sources: Literature |
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