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Fetal anomalies

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 5 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

ASCC1 was added to the panel as a Grey gene by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). ASCC1 rating was changed from Grey to Green following clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis; fetally relevant plus sufficient cases to support inclusion as per Julia Baptista's review.
Created: 29 Apr 2019, 12:44 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 12:28 p.m.

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

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.
Sources: Literature
Created: 21 Mar 2019, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • spinal muscular atrophy
  • arthrogryposis
  • fetal akinesia
  • hypotonia
  • contractures
OMIM
614215
Clinvar variants
Variants in ASCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to ASCC1. Rating Changed from No List (delete) to Green List (high evidence)

29 Apr 2019, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478

21 Mar 2019, Gel status: 0

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

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

gene: ASCC1 was added gene: ASCC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478 Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures Review for gene: ASCC1 was set to GREEN gene: ASCC1 was marked as current diagnostic