Muscular dystrophy and myopathy_Paediatric
Gene: ASCC1
PMID: 30327447; 35838082
>3 individuals from unrelated families with clinical features consistent with congenital myopathy
PMID: 35838082
Individual with congenital myopathy phenotype and a mutation in ASCC1.
PMID: 26924529
Animal study showed the effect on ASCC1 protein function in muscle cells.
Sources: OtherCreated: 8 May 2023, 12:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myopathy - MONDO:0019952
Publications
Additional family reported with bi-allelic variants and a myopathy phenotype.Created: 4 Aug 2022, 6:14 a.m. | Last Modified: 4 Aug 2022, 6:14 a.m.
Panel Version: 1.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 2 MIM#616867; myopathy
Publications
>3 cases with myopathy as a feature of the condition.
Sources: Expert listCreated: 10 Feb 2020, 12:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 2 MIM#616867
Publications
Gene: ascc1 has been classified as Green List (High Evidence).
Gene: ascc1 has been classified as Green List (High Evidence).
gene: ASCC1 was added gene: ASCC1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to (PMID: 30327447; 35838082; 26924529) Phenotypes for gene: ASCC1 were set to Congenital Myopathy - MONDO:0019952 Review for gene: ASCC1 was set to GREEN