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Familial tumoral calcinosis v1.4 | FGF23 | Ivone Leong Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 to Tumoral calcinosis, hyperphosphatemic, familial, 2, OMIM:617993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial tumoral calcinosis v0.11 | FGF23 | Ivone Leong commented on gene: FGF23: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial tumoral calcinosis v0.9 | FGF23 | Ivone Leong Classified gene: FGF23 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial tumoral calcinosis v0.9 | FGF23 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as per Martina Owen's (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust) initial gene rating. There are also >3 unrelated cases in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial tumoral calcinosis v0.9 | FGF23 | Ivone Leong Gene: fgf23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial tumoral calcinosis v0.8 | FGF23 | Martina Owens reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: 15590700; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial tumoral calcinosis v0.5 | FGF23 | Ivone Leong Phenotypes for gene: FGF23 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial tumoral calcinosis v0.3 | FGF23 | Ivone Leong Phenotypes for gene: FGF23 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial tumoral calcinosis v0.2 | FGF23 |
Ivone Leong gene: FGF23 was added gene: FGF23 was added to Familial tumoral calcinosis. Sources: NHS GMS Mode of inheritance for gene: FGF23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF23 were set to 15590700 |