Genomics England
GMS Panels
Panels
Genes and Entities

ADSL

adenylosuccinate lyase
OMIM: 608222
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADENYLOSUCCINASE DEFICIENCY 103050
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADENYLOSUCCINASE DEFICIENCY
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ade(-)I bifunctional Adenylosuccinase deficiency, 103050, ADENYLOSUCCINASE DEFICIENCY (ADSL DEFICIENCY)
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Epileptic encephalopathy, Adenylosuccinate lyase deficiency (Disorders of purine metabolism)