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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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Spinal Muscular Atrophy, X-Linked Infantile is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.

Well established gene-disease association.

HGNC approved symbol/name: ASCC1

Is the phenotype(s) severe and onset <18yo ? Y

Known technical challenges? N
Created: 14 Aug 2024, 1:03 a.m. | Last Modified: 14 Aug 2024, 1:03 a.m.
Panel Version: 1.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis; congenital bone fractures; spinal muscular atrophy; spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807; SMABF2 MIM#616867

Publications

Created: 14 Aug 2024, 1:03 a.m.
Last Modified: 14 Aug 2024, 1:03 a.m.
Panel version: 1.159

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
  • spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807
OMIM
614215
Clinvar variants
Variants in ASCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2024, 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).

22 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASCC1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASCC1 was added gene: ASCC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867