Genomics England
GMS Panels
Panels
Genes and Entities

ADSSL1

adenylosuccinate synthase like 1
OMIM: 612498
PanelMode of inheritanceDetails
3 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, distal, 5, OMIM:617030
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, distal, 5, OMIM:617030
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, distal, 5, OMIM:617030, myopathy, distal, 5, MONDO:0014877, hypertrophic cardiomyopathy, MONDO:0005045