Activity
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8 actions
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| Congenital myopathy v6.43 | RFC4 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RFC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.43 | RFC4 | Achchuthan Shanmugasundram commented on gene: RFC4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.42 | RFC4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RFC4. Source NHS GMS was added to RFC4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.44 | RFC4 | Achchuthan Shanmugasundram Classified gene: RFC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.44 | RFC4 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with congenital myopathy. Hence, this gene should be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.44 | RFC4 | Achchuthan Shanmugasundram Gene: rfc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.43 | RFC4 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RFC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.43 | RFC4 |
Achchuthan Shanmugasundram gene: RFC4 was added gene: RFC4 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC4 were set to 39106866 Phenotypes for gene: RFC4 were set to congenital myopathy, MONDO:0019952 Review for gene: RFC4 was set to GREEN Added comment: PMID:39106866 reported nine individuals (aged birth to 47 years) from eight unrelated families with a multisystem disorder. They presented with muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9). The age of onset of eight of nine individuals ranged from neonatal to childhood, while one individual had onset of symptoms in mid-30s. They were identified with biallelic loss-of-function variants in RFC4 gene (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions and 2 missense) This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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