Activity
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11 actions
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| Paediatric disorders - additional genes v7.33 | HMGA2 |
Ida Ertmanska Tag Q1_25_ NHS_review was removed from gene: HMGA2. Tag Q1_25_ promote_green was removed from gene: HMGA2. |
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| Paediatric disorders - additional genes v7.33 | HMGA2 | Ida Ertmanska reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.32 | HMGA2 |
Ida Ertmanska Source Expert Review Green was added to HMGA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v6.10 | HMGA2 | Achchuthan Shanmugasundram Classified gene: HMGA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.10 | HMGA2 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, the phenotypes observed are relevant to R27 Paediatric disorders clinical indication. In addition, this gene is currently missing in DDG2P panel and the phenotypes are not relevant to any other components of R27. There is sufficient evidence available for green rating and hence this gene should be promoted to green in the next GMS review. |
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| Paediatric disorders - additional genes v6.10 | HMGA2 | Achchuthan Shanmugasundram Gene: hmga2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.9 | HMGA2 | Achchuthan Shanmugasundram Phenotypes for gene: HMGA2 were changed from to Silver-Russell syndrome 5, OMIM:618908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.8 | HMGA2 | Achchuthan Shanmugasundram Publications for gene: HMGA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.7 | HMGA2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: HMGA2. Tag Q1_25_ promote_green tag was added to gene: HMGA2. |
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| Paediatric disorders - additional genes v6.7 | HMGA2 | Achchuthan Shanmugasundram reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25809938, 28796236, 29453418, 29655892; Phenotypes: Silver-Russell syndrome 5, OMIM:618908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | HMGA2 |
Tracy Lester gene: HMGA2 was added gene: HMGA2 was added to Paediatric disorders - additional genes. Sources: NHS GMS Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Penetrance for gene: HMGA2 were set to unknown Review for gene: HMGA2 was set to GREEN gene: HMGA2 was marked as current diagnostic Added comment: This gene is on the R453 panel but absent from R27 - adding so that syndromic cases of short stature have all genes on the R453 panel covered. Sources: NHS GMS |
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