Congenital muscular dystrophy and congenital myopathy
Gene: ASCC1EnsemblGeneIds (GRCh38): ENSG00000138303
EnsemblGeneIds (GRCh37): ENSG00000138303
OMIM: 614215, Gene2Phenotype
ASCC1 is in 5 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 3:45 p.m.
Panel Version: 0.229
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence (>3 unrelated cases and functional evidence from zebrafish model) for this gene to be promoted to GREEN rating at the next major review.
This gene has already been associated with relevant phenotypes in both OMIM and Gene2Phenotype.Created: 28 Mar 2023, 10:21 a.m. | Last Modified: 28 Mar 2023, 12:45 p.m.
Panel Version: 4.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867
Publications
Anna Sarkozy (Great Ormond Street Hospital)
recessive pathogenic variants in ASCC1 gene have now been described in a number of unrelated individuals presenting with a spectrum of phenotypes ranging from prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures to milder presentations without fractures, in keeping with a diagnosis of congenital myopathy .
Sources: LiteratureCreated: 24 Mar 2023, 11:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
prenatal-onset muscle weakness; congenital onset myopathy; arthrogryposis; congenital bone fractures
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867
- OMIM
- 614215
- Clinvar variants
- Variants in ASCC1
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: ASCC1. Tag Q1_23_NHS_review was removed from gene: ASCC1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to ASCC1. Source Expert Review Green was added to ASCC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)gene: ASCC1 was added gene: ASCC1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Amber,Literature Q1_23_promote_green, Q1_23_NHS_review tags were added to gene: ASCC1. Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to 26924529; 28218388; 30327447; 35276412; 35690317; 35838082 Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867 Penetrance for gene: ASCC1 were set to unknown Mode of pathogenicity for gene: ASCC1 was set to Other