Activity
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| Paediatric or syndromic cardiomyopathy v7.98 | NF1 | Ida Ertmanska Tag Q3_25_promote_green was removed from gene: NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.98 | NF1 | Ida Ertmanska reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.97 | NF1 |
Ida Ertmanska Source Expert Review Green was added to NF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v7.46 | NF1 | Achchuthan Shanmugasundram Classified gene: NF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.46 | NF1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with monoallelic NF1 gene deletions and hypertrophic cardiomyopathy. In addition, three patients were reported with monoallelic NF1 small variants and cardiomyopathy. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. |
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| Paediatric or syndromic cardiomyopathy v7.46 | NF1 | Achchuthan Shanmugasundram Gene: nf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.45 | NF1 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.45 | NF1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 29 August 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.45 | NF1 | Achchuthan Shanmugasundram Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 162200; Noonan syndrome; Neurofibromatosis syndrome 1; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis Noonan syndrome; Neurofibromatosis-Noonan Syndrome to Neurofibromatosis, type 1, OMIM:162200; Neurofibromatosis, familial spinal, OMIM:162210; Neurofibromatosis-Noonan syndrome, OMIM:601321; Watson syndrome, OMIM:193520; cardiomyopathy, MONDO:0004994 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.44 | NF1 | Achchuthan Shanmugasundram edited their review of gene: NF1: Changed phenotypes to: Neurofibromatosis, type 1, OMIM:162200, Neurofibromatosis, familial spinal, OMIM:162210, Neurofibromatosis-Noonan syndrome, OMIM:601321, Watson syndrome, OMIM:193520, cardiomyopathy, MONDO:0004994 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.44 | NF1 | Achchuthan Shanmugasundram Publications for gene: NF1 were set to 12707950; 16380919; 19845691 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v7.43 | NF1 | Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23278345, 30919579, 38654147, 39472908; Phenotypes: Neurofibromatosis, type 1, OMIM:162200, neurofibromatosis type 1, MONDO:0018975, cardiomyopathy, MONDO:0004994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.67 | NF1 | Ivone Leong commented on gene: NF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.66 | NF1 |
Ivone Leong Source Expert Review Amber was added to NF1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v0.16 | NF1 | Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | NF1 | Ivone Leong Source NHS GMS was added to NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.13 | ISCA-37431-Loss |
Ivone Leong Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Cardiomyopathies - including childhood onset. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NF1 MICRODELETION SYNDROME; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb |
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| Paediatric or syndromic cardiomyopathy v0.4 | NF1 |
Ivone Leong Source Expert List was added to NF1. Added phenotypes Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1 Publications for gene NF1 were changed from 12707950; 19845691; PMID: 16380919 to 12707950; 16380919; 19845691 |
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| Paediatric or syndromic cardiomyopathy v0.1 | NF1 |
Ivone Leong gene: NF1 was added gene: NF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 12707950; 19845691; PMID: 16380919 Phenotypes for gene: NF1 were set to Neurofibromatosis syndrome 1; Neurofibromatosis Noonan syndrome; Noonan syndrome; Neurofibromatosis-Noonan Syndrome |
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