Activity
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10 actions
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| Paediatric or syndromic cardiomyopathy v1.63 | MRAS | Ivone Leong Tag for-review was removed from gene: MRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.63 | MRAS | Ivone Leong commented on gene: MRAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.62 | MRAS |
Ivone Leong Source Expert Review Green was added to MRAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v1.19 | MRAS | Arina Puzriakova Phenotypes for gene: MRAS were changed from Noonan syndrome, 618499 to Noonan syndrome 11, OMIM:618499; Noonan syndrome 11, MONDO:0032786 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.7 | MRAS | Ivone Leong Classified gene: MRAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.7 | MRAS |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is also Green on the RASopathies panel (v 1.61). Review copied from RASopathies panel: "Associated with Noonan syndrome in OMIM and G2P (confirmed). PMID: 28289718 (2017) - In two unrelated patients with Noonan syndrome and cardiac hypertrophy, trio WES/targeted sequencing revealed de novo missense variants (c.68G>T, p.G23V and c.203C>T, p.T68I) in the MRAS gene. Functional studies of the p.Gly23Val variant showed the change yields a constitutively active form of MRAS. PMID: 31173466 (2019) - One patient with a severe a Noonan syndrome phenotype, associated with a de novo MRAS variant (c.212A>G, p.Q71R). Functional studies were not performed. PMID: 31108500 (2020) - Two unrelated patients with Noonan syndrome, including hypertrophic cardiomyopathy and dysmorphic features. Targeted sequencing revealed de novo activating MRAS variants (c.203C>T, p.T68I and c.67G>C, p.G23R). Functional studies demonstrated that the variants yields a constitutively active form of MRAS. Arina Puzriakova (Genomics England Curator), 4 Aug 2020" Therefore, this gene will be promoted to Green status at the next major review. |
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| Paediatric or syndromic cardiomyopathy v1.7 | MRAS | Ivone Leong Gene: mras has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.6 | MRAS | Ivone Leong Tag for-review tag was added to gene: MRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.6 | MRAS | Ivone Leong Phenotypes for gene: MRAS were changed from Noonan syndrome, MIM#618499 to Noonan syndrome, 618499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.5 | MRAS |
Zornitza Stark gene: MRAS was added gene: MRAS was added to Cardiomyopathies - including childhood onset. Sources: Expert list Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466 Phenotypes for gene: MRAS were set to Noonan syndrome, MIM#618499 Mode of pathogenicity for gene: MRAS was set to Other Review for gene: MRAS was set to GREEN gene: MRAS was marked as current diagnostic Added comment: At least 6 unrelated individuals reported with NS, cardiomyopathy specifically reported. Sources: Expert list |
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