ASCC1

activating signal cointegrator 1 complex subunit 1
OMIM: 614215
PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with congenital bone fractures 2, 616867, Spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures, spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures