Genomics England
GMS Panels
Panels
Genes and Entities

ASCC1

activating signal cointegrator 1 complex subunit 1
OMIM: 614215
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 2, 616867, Spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures, spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures