Activity
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| Skeletal dysplasia v8.37 | FGF4 | Eleanor Williams Tag Q3_25_promote_green was removed from gene: FGF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.37 | FGF4 | Eleanor Williams commented on gene: FGF4: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.36 | FGF4 |
Eleanor Williams Source NHS GMS was added to FGF4. Source Expert Review Green was added to FGF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v8.6 | FGF4 | Eleanor Williams Classified gene: FGF4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.6 | FGF4 | Eleanor Williams Added comment: Comment on list classification: Promoting to amber with a recommendation of green rating following GMS review. 2 unrelated cases plus a supportive mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.6 | FGF4 | Eleanor Williams Gene: fgf4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.5 | FGF4 |
Eleanor Williams gene: FGF4 was added gene: FGF4 was added to Skeletal dysplasia. Sources: Literature Q3_25_promote_green tags were added to gene: FGF4. Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF4 were set to 40259859; 33210601 Phenotypes for gene: FGF4 were set to Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260; Jeune syndrome, MONDO:0018770 Review for gene: FGF4 was set to GREEN Added comment: Associated with Short-rib thoracic dysplasia 22 without polydactyly, OMIM:621260 (AR) PMID: 40259859 - Watts et al 2025 report 2 unrelated families (1 in the 100,000 Genomes project) with a clinical diagnosis of thoracic dystrophy with associated respiratory insufficiency. Family 1 - 2 affected boys clinically suspected to have Jeune syndrome, and 3 unaffected children born to healthy consanguineous 2nd cousin parents. Both affected individuals had narrow/small thorax and short ribs (11 pairs). 2nd child died at 3 months from respiratory infection. Both affected children were homozygous for a missense variant in FGF4 (c.256C>T p.(Leu86Phe)). Parents are confirmed carriers and 2 of the 3 unaffected siblings do not carry the variant. Family 2 - 1 male with a chest shape suggesting thoracic dystrophy and a clinical suspicion of Jeune syndrome. A biallelic missense variant in FGF4 NM_002007.4:c.611C>A p.(Pro204His) was identified. Parents were both heterozygous carriers. The variants are absent from gnomAD and UK Biobank and are predicted to be damaging by multiple in silico tools. PMID: 33210601 - Anderson et al 2020 - Mouse mutants lacking Fgf4 Fgf4 show a variety of segmentation defects in the cervical and thoracic vertebrae with 100% penetrance. Sources: Literature |
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