Hereditary Neuropathy - complex
Gene: ASCC1

ASCC1 (activating signal cointegrator 1 complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000138303
EnsemblGeneIds (GRCh37): ENSG00000138303
OMIM: 614215, Gene2Phenotype
ASCC1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

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.
Created: 23 Mar 2020, 3 a.m. | Last Modified: 23 Mar 2020, 3 a.m.

Panel Version: 0.9

Comment on list classification: Not relevant for testing in an adult hospital. Onset of disease is prenatal and death occurs in the first days or months of life.
Created: 15 Jan 2020, 3:07 a.m. | Last Modified: 15 Jan 2020, 3:07 a.m.

Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with congenital bone fractures 2 MIM#616867; dHMN/dSMA

Publications

Created: 15 Jan 2020, 3:07 a.m.
Last Modified: 15 Jan 2020, 3:07 a.m.
Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Spinal muscular atrophy with congenital bone fractures 2

OMIM

614215

Clinvar variants

Variants in ASCC1

Penetrance

None

Publications

26924529

Panels with this gene