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  3. ASCC3
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Muscular dystrophy and myopathy_Paediatric

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 3 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 81, MIM# 620700

Publications

Created: 5 Feb 2024, 2:14 a.m.
Last Modified: 5 Feb 2024, 2:14 a.m.
Panel version: 1.8

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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: Other
Created: 8 May 2023, 1:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms

Publications

Created: 8 May 2023, 1:17 a.m.

Panel version: 0.128

Bryony Thompson (Royal Melbourne Hospital)

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: 22 Feb 2021, 10:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuromuscular syndrome; congenital myopathy

Publications

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

Created: 22 Feb 2021, 10:18 p.m.

Panel version: Imported from Myopathy - paediatric onset panel version 1.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 81, MIM# 620700
OMIM
614217
Clinvar variants
Variants in ASCC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASCC3 were changed from Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms to Intellectual developmental disorder, autosomal recessive 81, MIM# 620700

5 Feb 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASCC3 were set to 35047834

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ascc3 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: ascc3 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: 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