| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Muscular dystrophy and myopathy_Paediatric v1.108 | CACNB1 | Zornitza Stark Marked gene: CACNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.108 | CACNB1 | Zornitza Stark Gene: cacnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.108 | CACNB1 | Zornitza Stark Classified gene: CACNB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.108 | CACNB1 | Zornitza Stark Gene: cacnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.107 | CACNB1 |
Zornitza Stark gene: CACNB1 was added gene: CACNB1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CACNB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNB1 were set to 41023410 Phenotypes for gene: CACNB1 were set to Congenital muscular dystrophy MONDO:0020121, CACNB1-related Review for gene: CACNB1 was set to AMBER Added comment: PMID: 41023410 - Different phenotype - congenital muscular dystrophy. Only two consanguineous families have been reported with variants in this gene. 3 individuals from two unrelated consanguineous families present with myopathy, elevated CK levels and low body weight Two biallelic rare variants were identified in CACNB1 - c.124_133del; p.(Asp42Argfs*37 and c.85-1G>A) RNA assay was conducted on isolated RNA showed the generation of a PTC leading to a truncated protein. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||