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| Disorders of sex development v3.3 | FGFR2 | Arina Puzriakova Tag Q2_21_expert_review was removed from gene: FGFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.66 | FGFR2 | Eleanor Williams commented on gene: FGFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.45 | FGFR2 | Ivone Leong Tag Q2_21_expert_review tag was added to gene: FGFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.45 | FGFR2 | Ivone Leong Classified gene: FGFR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.45 | FGFR2 |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. After consulting with the Genomics England Clinical Team, it was decided that this gene should be rated Amber. Helen Brittain (Genomics England): "In the fetal cases the potential DSD phentoype is very mild and eclipsed by the skeletal / craniosynostosis presentation." |
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| Disorders of sex development v2.45 | FGFR2 | Ivone Leong Gene: fgfr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.32 | FGFR2 | Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.31 | FGFR2 | Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190; 2238701 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.30 | FGFR2 | Ivone Leong Publications for gene: FGFR2 were set to 26362256; 18155190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.29 | FGFR2 | Ivone Leong Phenotypes for gene: FGFR2 were changed from LADD syndrome 149730; Bent bone dysplasia syndrome 614592 to LADD syndrome, OMIM:149730; Bent bone dysplasia syndrome, OMIM:614592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of sex development v2.4 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to Disorders of sex development. Sources: Expert list Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR2 were set to 26362256; 18155190 Phenotypes for gene: FGFR2 were set to LADD syndrome 149730; Bent bone dysplasia syndrome 614592 Review for gene: FGFR2 was set to GREEN Added comment: PMID: 26362256 - 1 individual with craniosynostosis and XY sex reversal and a missense variant. Phenotype recapitulated using mouse model, concludes a LOF mechanism. PMID: 18155190 - partial null mutant mouse model shows XY sex reversal PMID: 2238701 - 4 fetuses with de novo mutations and a skeletal disorder 3/4 had clitoromegaly, last fetus only had radiograph available. p.(Met391Arg) is recurring, variants are supported by functional studies showing protein mislocalization Mutations reported for all other FGFR2-related conditions have a GOF mechanism Sources: Expert list |
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