| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Familial tumoral calcinosis v1.6 | SAMD9 | Ivone Leong Phenotypes for gene: SAMD9 were changed from Tumoral calcinosis, familial, normophosphatemic, 610455 to Tumoral calcinosis, familial, normophosphatemic, OMIM:610455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.11 | SAMD9 | Ivone Leong commented on gene: SAMD9: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that SAM9D should remain amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.11 | SAMD9 | Ivone Leong Classified gene: SAMD9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.11 | SAMD9 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. PMID: 16960814 identified the same missense variant in 5 Jewish Yemenite families. PMID: 18094730 identified a nonsense variant in an individual of Jewish Yemenite origin. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.11 | SAMD9 | Ivone Leong Gene: samd9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.8 | SAMD9 | Martina Owens reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16960814, 18094730; Phenotypes: Tumoral calcinosis, familial, normophosphatemic, 610455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.7 | SAMD9 | Ivone Leong Phenotypes for gene: SAMD9 were changed from to Tumoral calcinosis, familial, normophosphatemic, 610455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.2 | SAMD9 |
Ivone Leong gene: SAMD9 was added gene: SAMD9 was added to Familial tumoral calcinosis. Sources: NHS GMS Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMD9 were set to 18094730; 16960814 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||