Muscular dystrophy and myopathy_Paediatric
Gene: ASCC3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 81, MIM# 620700
Publications
PMID: 35047834
11 individuals from 7 unrelated families present with clinical phenotypes consistent with ASCC3-related myopathy.
All individuals reported developmental delay and muscle weakness but age of onset is unknown
Sources: OtherCreated: 8 May 2023, 1:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms
Publications
11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue.
Sources: LiteratureCreated: 22 Feb 2021, 10:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuromuscular syndrome; congenital myopathy
Publications
Phenotypes for gene: ASCC3 were changed from Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms to Intellectual developmental disorder, autosomal recessive 81, MIM# 620700
Publications for gene: ASCC3 were set to 35047834
Gene: ascc3 has been classified as Green List (High Evidence).
Gene: ascc3 has been classified as Green List (High Evidence).
gene: ASCC3 was added gene: ASCC3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 35047834 Phenotypes for gene: ASCC3 were set to Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms Review for gene: ASCC3 was set to GREEN