Activity
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| Limb disorders v7.20 | FGFR1 | Ida Ertmanska commented on gene: FGFR1: Comment on mode of inheritance: There are more than 3 unrelated cases reported for both dominant and recessive FGFR1-related hypogonadotropic hypogonadism with split hand/foot malformation (more severe in recessive cases, see PMID: 25394172). The condition is usually caused by heterozygous kinase domain variants or homozygous extracellular domain mutations, but there are exceptions to this genotype-phenotype pattern (e.g. PMID: 27790375). Based on available evidence, the MOI for Limb disorders should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.20 | FGFR1 | Ida Ertmanska Phenotypes for gene: FGFR1 were changed from Encephalocraniocutaneous lipomatosis, somatic mosaism, 613001; Hartsfield syndrome, 615465; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Jackson-Weiss syndrome, 123150; Osteoglophonic dysplasia, 166250; Pfeiffer syndrome,101600; Trigonocephaly 1,190440; Polydactyly to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.19 | FGFR1 | Ida Ertmanska Publications for gene: FGFR1 were set to 23154428; 23812909; 25394172; 27055092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.18 | FGFR1 | Ida Ertmanska Publications for gene: FGFR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.17 | FGFR1 | Ida Ertmanska Tag Q1_26_MOI tag was added to gene: FGFR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.17 | FGFR1 | Ida Ertmanska reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23154428, 23812909, 25394172, 27055092; Phenotypes: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders | FGFR1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||