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Congenital myopathy v7.40 HRAS Achchuthan Shanmugasundram Classified gene: HRAS as Amber List (moderate evidence)
Congenital myopathy v7.40 HRAS Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least six unrelated cases reported with monoallelic HRAS variants and congenital myopathy with excess of muscle spindles (CMEMS). Hence, this gene can be promoted to green rating in the next GMS update.
Congenital myopathy v7.40 HRAS Achchuthan Shanmugasundram Gene: hras has been classified as Amber List (Moderate Evidence).
Congenital myopathy v7.39 HRAS Achchuthan Shanmugasundram Phenotypes for gene: HRAS were changed from Costello syndrome, OMIM:218040; Congenital myopathy with excess of muscle spindles, OMIM:218040 to Congenital myopathy with excess of muscle spindles, OMIM:218040; Costello syndrome, OMIM:218040; Costello syndrome, MONDO:0009026
Congenital myopathy v7.38 HRAS Achchuthan Shanmugasundram Publications for gene: HRAS were set to 17412879
Congenital myopathy v7.37 HRAS Achchuthan Shanmugasundram Mode of inheritance for gene: HRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v7.36 HRAS Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: HRAS.
Tag Q2_26_NHS_review tag was added to gene: HRAS.
Congenital myopathy v7.36 HRAS Achchuthan Shanmugasundram reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17412879, 25070542, 26001911; Phenotypes: Congenital myopathy with excess of muscle spindles, OMIM:218040, Costello syndrome, OMIM:218040, Costello syndrome, MONDO:0009026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v7.14 HRAS Anna Sarkozy edited their review of gene: HRAS: Added comment: congenital myopathy with excess muscle spindles; congenital weakness, hypotonia, arthrogryposis, atrial tachycardia, hypertrophic cardiomyopathy, and marked excess of muscle spindles on biopsy.; Changed rating: GREEN; Changed publications to: 17412879, 11150980; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v3.47 HRAS Arina Puzriakova Phenotypes for gene: HRAS were changed from Costello syndrome 218040; Congenital myopathy with excess of muscle spindles 218040 to Costello syndrome, OMIM:218040; Congenital myopathy with excess of muscle spindles, OMIM:218040
Congenital myopathy HRAS Anna Sarkozy reviewed HRAS
Congenital myopathy HRAS Helen Brittain marked HRAS as ready
Congenital myopathy HRAS Helen Brittain classified HRAS as red
Congenital myopathy HRAS Helen Brittain reviewed HRAS