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Mendeliome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Combined neuromuscular and neurobehavioral phenotype.
Created: 5 Feb 2024, 2:12 a.m. | Last Modified: 5 Feb 2024, 2:12 a.m.
Panel Version: 1.1523

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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, 10:14 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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 Neuromuscular syndrome; congenital myopathy 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 21937992; https://doi.org/10.1016/j.xhgg.2021.100024

22 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ascc3 has been classified as Green List (High Evidence).

22 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ascc3 has been classified as Green List (High Evidence).

22 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ASCC3 was added gene: ASCC3 was added to Mendeliome. 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 Neuromuscular syndrome; congenital myopathy Review for gene: ASCC3 was set to GREEN