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  2. Congenital muscular dystrophy and congenital myopathy
  3. ASCC3
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Congenital muscular dystrophy and congenital myopathy

Gene: ASCC3

Green List (high evidence)
ASCC3 (activating signal cointegrator 1 complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000112249
EnsemblGeneIds (GRCh37): ENSG00000112249
OMIM: 614217, Gene2Phenotype
ASCC3 is in 4 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:10 p.m.
Panel Version: 3.14
Created: 1 Feb 2023, 5:10 p.m.
Last Modified: 1 Feb 2023, 5:10 p.m.
Copied from panel: Congenital myopathy v3.17

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (possible gene-disease association) but not OMIM. There is enough evidence for this gene to be Green.
Created: 12 Jul 2021, 12:26 p.m. | Last Modified: 12 Jul 2021, 12:26 p.m.
Panel Version: 2.56
Created: 12 Jul 2021, 12:26 p.m.
Last Modified: 12 Jul 2021, 12:26 p.m.
Copied from panel: Congenital myopathy v3.17

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: Literature
Created: 5 Mar 2021, 6:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy

Publications

  • 21937992
  • https://doi.org/10.1016/j.xhgg.2021.100024

Created: 5 Mar 2021, 6:18 a.m.

Copied from panel: Congenital myopathy v3.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Congenital myopathy, MONDO:0019952
  • Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
OMIM
614217
Clinvar variants
Variants in ASCC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 May 2024, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked was removed from gene: ASCC3.

8 May 2024, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ASCC3 were changed from Congenital myopathy, MONDO:0019952 to Congenital myopathy, MONDO:0019952; Intellectual developmental disorder, autosomal recessive 81, OMIM:620700

7 Feb 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: ASCC3.

3 Feb 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ASCC3 were changed from congenital myopathy, MONDO:0019952 to Congenital myopathy, MONDO:0019952

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: ASCC3 was added gene: ASCC3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Literature,Expert Review Green Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992; 35047834 Phenotypes for gene: ASCC3 were set to congenital myopathy, MONDO:0019952