Genomics England
GMS Panels
Panels
Genes and Entities

ASCC1

activating signal cointegrator 1 complex subunit 1
OMIM: 614215
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 2, 616867, Spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures, spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures