Epileptic encephalopathy
Gene: ADSL
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ADSL were set to Adenylosuccinase deficiency
Publications for ADSL were set to Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513
The Gel status was updated for this whole panel
ADSL was added to Epileptic encephalopathypanel. Sources: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene ADSL was changed to BIALLELIC, autosomal or pseudoautosomal
ADSL was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
ADSL was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert