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  2. Muscular dystrophy and myopathy_Paediatric
  3. ASCC1
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Muscular dystrophy and myopathy_Paediatric

Gene: ASCC1

Green List (high evidence)
ASCC1 (activating signal cointegrator 1 complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138303
EnsemblGeneIds (GRCh37): ENSG00000138303
OMIM: 614215, Gene2Phenotype
ASCC1 is in 8 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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: Other
Created: 8 May 2023, 12:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Myopathy - MONDO:0019952

Publications

Created: 8 May 2023, 12:58 a.m.

Panel version: 0.128

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 4 Aug 2022, 6:14 a.m.
Last Modified: 4 Aug 2022, 6:14 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 1.33

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases with myopathy as a feature of the condition.
Sources: Expert list
Created: 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

Created: 10 Feb 2020, 12:28 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital Myopathy - MONDO:0019952
OMIM
614215
Clinvar variants
Variants in ASCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ascc1 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ascc1 has been classified as Green List (High Evidence).

8 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

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