Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.17 | FGFR1 | Ida Ertmanska Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism 2 with out without anosmia to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.16 | FGFR1 | Ida Ertmanska Publications for gene: FGFR1 were set to (PMID: 41108094; 34589657; 32853167) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.15 | FGFR1 | Ida Ertmanska Classified gene: FGFR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.15 | FGFR1 | Ida Ertmanska Added comment: Comment on list classification: There is only one individual reported in literature with a biallelic FGFR1 variant and a diagnosed difference in sex development (ambiguous genitalia - PMID: 27055092). Other reported cases are more aligned with diagnosis of Hypogonadotropic hypogonadism (FGFR1 is already Green on that panel). Hence, this gene can only be rated Red on Differences in sex development given the evidence available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.15 | FGFR1 | Ida Ertmanska Gene: fgfr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.14 | FGFR1 | Ida Ertmanska edited their review of gene: FGFR1: Changed rating: RED; Changed publications to: 23154428, 23812909, 25394172, 27055092, 32853167, 34589657, 41108094; Changed phenotypes to: Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950, Hartsfield syndrome, OMIM:615465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.14 | FGFR1 | Ida Ertmanska commented on gene: FGFR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.14 | FGFR1 |
Rabina Akhtar gene: FGFR1 was added gene: FGFR1 was added to Differences in sex development. Sources: Literature,Research Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR1 were set to (PMID: 41108094; 34589657; 32853167) Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with out without anosmia Penetrance for gene: FGFR1 were set to Complete Review for gene: FGFR1 was set to GREEN gene: FGFR1 was marked as current diagnostic Added comment: PMID:41108094 reports a 14 year old male patient with micropenis, hypoplasia of the testes and angulation of the penis and was found to have a likely pathogenic FGFR1 c.263_264del p.Val88Alafs*22. PMID:34589657 reports a 7 year old male patient with history of bilateral cryptorchidism and was found to have a pathogenic FGFR1 c.1955A>C p.His652pro. PMID: 32853167 reports a 16 year old male with micropenis and bilateral cryptorchidism and was found to have a FGFR1 c.1864C>T p.Arg622* Additional male patient identified at WMGL with bilateral cryptorchidism and micropenis was found to have FGFR1 c.2008G>A p.Glu670Lys Sources: Literature, Research |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||