| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Familial tumoral calcinosis v1.7 | KL | Ivone Leong Phenotypes for gene: KL were changed from Tumoral calcinosis, hyperphosphatemic, familial, 3 617994 to Tumoral calcinosis, hyperphosphatemic, familial, 3, OMIM:617994 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.5 | GALNT3 | Ivone Leong Phenotypes for gene: GALNT3 were changed from Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 to Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.12 |
Ivone Leong List of related panels changed from to R162 Panel types changed to GMS Rare Disease; GMS signed-off |
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| 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 | GALNT3 | Ivone Leong commented on gene: GALNT3: 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 v0.11 | 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 v0.11 | 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 v0.10 | GALNT3 | Ivone Leong Classified gene: GALNT3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumoral calcinosis v0.10 | GALNT3 | 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 v0.10 | GALNT3 | Ivone Leong Gene: galnt3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 v0.8 | KL | Martina Owens reviewed gene: KL: Rating: RED; Mode of pathogenicity: ; Publications: 17710231; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 617994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.8 | GALNT3 | Martina Owens reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15133511; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900; 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 v0.6 | KL | Ivone Leong Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 617994 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.4 | GALNT3 | Ivone Leong Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 |
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| Familial tumoral calcinosis v0.2 | KL |
Ivone Leong gene: KL was added gene: KL was added to Familial tumoral calcinosis. Sources: NHS GMS Mode of inheritance for gene: KL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KL were set to 17710231 |
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| 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 |
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| Familial tumoral calcinosis v0.2 | GALNT3 |
Ivone Leong gene: GALNT3 was added gene: GALNT3 was added to Familial tumoral calcinosis. Sources: NHS GMS Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNT3 were set to 15133511 |
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| Familial tumoral calcinosis v0.0 |
Ellen McDonagh Added Panel Familial tumoral calcinosis Set panel types to: GMS Rare Disease |
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