Activity
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| Paediatric disorders - additional genes v6.7 | PLAG1 | Achchuthan Shanmugasundram Phenotypes for gene: PLAG1 were changed from short stature to Silver-Russell syndrome 4, OMIM:618907 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.4 | PLAG1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Tracy Lester, the phenotypes observed are relevant to R27 Paediatric disorders clinical indication and this gene is present with 'strong' rating on the DD panel of Gene2Phenotype database. As there is sufficient evidence available for green rating, this gene should be promoted to green in the next GMS review.; to: Comment on list classification: As reviewed by Tracy Lester, the phenotypes observed are relevant to R27 Paediatric disorders clinical indication, and this gene is present with 'strong' rating on the DD panel of Gene2Phenotype database. As there is sufficient evidence available for green rating, this gene should be promoted to green in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.4 | PLAG1 | Achchuthan Shanmugasundram Classified gene: PLAG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.4 | PLAG1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester, the phenotypes observed are relevant to R27 Paediatric disorders clinical indication and this gene is present with 'strong' rating on the DD panel of Gene2Phenotype database. As there is sufficient evidence available for green rating, this gene should be promoted to green in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.4 | PLAG1 | Achchuthan Shanmugasundram Gene: plag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | PLAG1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PLAG1. Tag Q1_25_ promote_green tag was added to gene: PLAG1. |
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| Paediatric disorders - additional genes v6.3 | PLAG1 | Achchuthan Shanmugasundram reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28796236, 32546215, 33291420, 37673301; Phenotypes: Silver-Russell syndrome 4, OMIM:618907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v6.3 | PLAG1 |
Tracy Lester gene: PLAG1 was added gene: PLAG1 was added to Paediatric disorders - additional genes. Sources: NHS GMS Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLAG1 were set to 28796236 Phenotypes for gene: PLAG1 were set to short stature Penetrance for gene: PLAG1 were set to unknown gene: PLAG1 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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