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Motor Neurone Disease

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

3 individuals from unrelated families with a muscle biopsy confirming muscular atrophy and a mutation in ASCC1.


PMID: 26924529
Knockout zebrafish model confirmed the impairment of axonal growth in muscle biopsies of zebrafish embryos in the presence of a mutation in ASCC1.
Created: 18 May 2023, 2:02 a.m. | Last Modified: 18 May 2023, 2:02 a.m.
Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807; MIM#616867)

Publications

Created: 18 May 2023, 2:02 a.m.
Last Modified: 18 May 2023, 2:02 a.m.
Panel version: 0.138

Sarah Pantaleo (Victorian Clinical Genetics Services)

Green List (high evidence)

>3 cases/families reported with a complex neuropathy phenotype. Onset of disease is prenatal and death occurs in the first days or months of life. (Has been reviewed for Hereditary Neuropathy panel.)
Created: 20 Apr 2020, 2:33 a.m. | Last Modified: 20 Apr 2020, 2:33 a.m.
Panel Version: 0.2361

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis; congenital bone fractures; spinal muscular atrophy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Apr 2020, 2:33 a.m.
Last Modified: 20 Apr 2020, 2:33 a.m.
Panel version: Imported from Mendeliome panel version 0.2361

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807
  • MIM#616867)
OMIM
614215
Clinvar variants
Variants in ASCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASCC1 were changed from to spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807; MIM#616867)

30 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASCC1 were set to

30 May 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASCC1 was added gene: ASCC1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: ASCC1 was set to Unknown