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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.16 | GCM2 | Ivone Leong Tag for-review was removed from gene: GCM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.16 | GCM2 | Ivone Leong commented on gene: GCM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.15 | GCM2 |
Ivone Leong Source Expert Review Green was added to GCM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.6 | GCM2 |
Ivone Leong changed review comment from: PMID 31671402 is an additional paper report on the same variant that was detected previously by Guan et al 2016 and 2017. This gene is recommended to be promoted to Green at the next review.; to: Looking at the available evidence, there is an additional paper (PMID 31671402) reporting on the same variant that was detected previously by Guan et al 2016 and 2017. This gene is recommended to be promoted to Green at the next review. This gene was proposed to be given Green status by Soo-Mi Park (East Anglian Medical Genetics Service). |
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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.6 | GCM2 | Ivone Leong Tag for-review tag was added to gene: GCM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.6 | GCM2 | Ivone Leong edited their review of gene: GCM2: Added comment: PMID 31671402 is an additional paper report on the same variant that was detected previously by Guan et al 2016 and 2017. This gene is recommended to be promoted to Green at the next review.; Changed publications: 31671402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.6 | GCM2 | Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504; 14715834; 29199197 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | GCM2 | Ivone Leong Marked gene: GCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | GCM2 | Ivone Leong Added comment: Comment when marking as ready: Comment on list classification: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So demoted from green to amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | GCM2 | Ivone Leong Gene: gcm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | GCM2 | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | GCM2 | Ivone Leong Classified gene: GCM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | GCM2 | Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So demoted from green to amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.28 | GCM2 | Ivone Leong Gene: gcm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.26 | GCM2 | Martina Owens reviewed gene: GCM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27745835, 29264504; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.16 | GCM2 | Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504; 14715834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | GCM2 | Treena Cranston reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27745835, PMID: 29264504, PMID: 29199197; Phenotypes: hyperparathyroidism, hypoparathyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | GCM2 | Ivone Leong Marked gene: GCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | GCM2 | Ivone Leong Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 | GCM2 | Ivone Leong Classified gene: GCM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 | GCM2 | Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on below comment. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.4 | GCM2 | Ivone Leong Gene: gcm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.3 | GCM2 | Ivone Leong Publications for gene: GCM2 were set to 27745835; 29264504 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.2 | GCM2 | Ivone Leong reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | GCM2 |
Ivone Leong gene: GCM2 was added gene: GCM2 was added to Familial hyperparathyroidism. Sources: Radboud University Medical Center, Nijmegen,Literature Mode of inheritance for gene: GCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GCM2 were set to 27745835; 29264504 Phenotypes for gene: GCM2 were set to Hypoparathyroidism, familial isolated (146200); Hyperparathyroidism 4 (617343) |
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