Congenital myopathy

Gene: ASCC3

Amber List (moderate evidence)

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

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital myopathy, MONDO:0019952
Tags
Q3_21_rating
OMIM
614217
Clinvar variants
Variants in ASCC3
Penetrance
None
Publications
  • 21937992
  • https://doi.org/10.1016/j.xhgg.2021.100024
Panels with this gene

History Filter Activity

12 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ascc3 has been classified as Amber List (Moderate Evidence).

12 Jul 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: ASCC3.

8 Jul 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

5 Mar 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ASCC3 was added gene: ASCC3 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024 Phenotypes for gene: ASCC3 were set to congenital myopathy Review for gene: ASCC3 was set to GREEN