Paediatric disorders - additional genes

Gene: ASCC1

Green List (high evidence)

Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant.

Created: 21 Mar 2019, 11:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures

Publications

• PMID: 26924529
• 30327447
• 28749478

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

I don't know

Comment on list classification: Updated rating of ASCC1 on the 'Paediatric disorders - additional genes' panel from Red to Green based on the review Julia Baptista left on the 'DDG2P' panel and the 'Fetal anomalies' panel. ASCC1 was originally Red on the DDG2P panel based on a Gene2Phenotype Disease confidence rating of 'possible' for: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures (MOI: biallelic). There are sufficient cases to support inclusion as a Green paediatric gene as per Julia Baptista's review. ASCC1 is already Green on the Fetal anomalies panel, and the Arthrogryposis panel.

Created: 9 Jul 2019, 9:50 a.m. | Last Modified: 9 Jul 2019, 9:50 a.m.

Panel Version: 0.15

My review from 18th Nov 2018 was imported from the DDG2P panel.

Created: 9 Jul 2019, 9:44 a.m. | Last Modified: 9 Jul 2019, 9:44 a.m.

Panel Version: 0.12

ASCC1 was added to this 'Paediatric disorders - additional genes panel' to allow curation of the review by Julia Baptista left on the DDG2P panel (Review left March 2019).

Created: 9 Jul 2019, 9:42 a.m. | Last Modified: 9 Jul 2019, 9:42 a.m.

Panel Version: 0.12

Original DDG2P rating: possible.

Created: 19 Nov 2018, 11:29 a.m.