Activity
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15 actions
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| Silver Russell syndrome v1.13 | IGF1 | Arina Puzriakova Phenotypes for gene: IGF1 were changed from Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747 to Insulin-like growth factor I deficiency, OMIM:608747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.12 | IGF1R | Arina Puzriakova Phenotypes for gene: IGF1R were changed from Insulin-like growth factor I, resistance to 270450 to Insulin-like growth factor I, resistance to, OMIM:270450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.11 | HMGA2 | Arina Puzriakova Phenotypes for gene: HMGA2 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.9 | PLAG1 | Ivone Leong Classified gene: PLAG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.9 | PLAG1 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green. This gene is a Green gene on the Growth failure in early childhood panel (code 473, v1.3), which has been signed off by the GMS Endocrinology specialist group (31/07/2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.9 | PLAG1 | Ivone Leong Gene: plag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.8 | PLAG1 | Ivone Leong Phenotypes for gene: PLAG1 were changed from to SRS; Silver-Russell syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.7 | PLAG1 |
Ivone Leong gene: PLAG1 was added gene: PLAG1 was added to Silver Russell syndrome. Sources: Expert Review Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLAG1 were set to 28796236 |
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| Silver Russell syndrome v1.6 | HMGA2 | Ivone Leong Classified gene: HMGA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.6 | HMGA2 | Ivone Leong Gene: hmga2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.5 | HMGA2 |
Ivone Leong gene: HMGA2 was added gene: HMGA2 was added to Silver Russell syndrome. Sources: Expert Review Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMGA2 were set to 29655892 Phenotypes for gene: HMGA2 were set to SRS; Silver-Russell syndrome Review for gene: HMGA2 was set to GREEN Added comment: This is a Green gene on the Growth failure in early childhood panel (code 473, v1.3), which has been signed off by the GMS Endocrinology specialist group (31/07/2019). Sources: Expert Review |
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| Silver Russell syndrome v1.4 | IGF2 | Ivone Leong Classified gene: IGF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.4 | IGF2 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green as this gene is a Green gene on the Growth failure in early childhood panel (code 473, v1.3), which has been signed off by the GMS Endocrinology specialist group (31/07/2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome v1.4 | IGF2 | Ivone Leong Gene: igf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Silver Russell syndrome | H19 | Ellen McDonagh commented on H19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||